TP53 Database: Search Germline Variant Data

Topography

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Morphology

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cDNA Descriptions

i.e.: c.524G>A or 524G>A

Reference Sequence: NM_000546.5

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Protein Descriptions

i.e.: p.R175H or R175H

Reference Sequence: UniProt P04637

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Genomic Descriptions (hg19)

i.e.: g.7578406C>T or 7578406C>T

Reference Sequence: GenBank NC_000017.10

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Genomic Descriptions (hg38)

i.e.: g.7675088C>T or 7675088C>T

Reference Sequence: GenBank NC_000017.11

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Type

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Description

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Struct-Function Motif

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Exon/Intron

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Effect

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Transactivation Class

functional

non-functional

partially functional

supertrans

SIFT Class

Damaging

Tolerated

Chromosome Positioning

hg19

hg38

Mutant Base (coding)

Codon Number

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Codon No.

Start (≤)

(≤) End

Wild-Type Codon

Mutant Codon

Wild-Type Amino Acid

Mutant Amino Acid

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p53 Coding Sequence

Genetic Code

Confirmed or Obligate Carriers Only

Cancer-Affected Individuals Only

Age at Diagnosis

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End

Sex

Female

Male

Family History

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Mode of Inheritance

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Reference

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Author	Year	Title	Journal	PubMed	Abstract
Churpek JE;Marquez R;Neistadt B;Claussen K;Lee MK;Churpek MM;Huo D;Weiner H;Bannerjee M;Godley LA;Le Beau MM;Pritchard CC;Walsh T;King MC;Olopade OI;Larson RA;	20	Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia	Cancer	26641009
Malkin D;Li FP;Strong LC;Fraumeni JF;Nelson CE;Kim DH;Kassel J;Gryka MA;Bischoff FZ;Tainsky MA;	1990	Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms	Science	1978757
Srivastava S;Zou ZQ;Pirollo K;Blattner W;Chang EH;	1990	Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome	Nature	91080929
Chung R;Whaley J;Kley N;Anderson K;Louis D;Menon A;Hettlich C;Freiman R;Hedley-Whyte ET;Martuza R;	1991	TP53 gene mutations and 17p deletions in human astrocytomas	Genes Chromosomes Cancer	1686725
Law JC;Strong LC;Chidambaram A;Ferrell RE;	1991	A germ line mutation in exon 5 of the p53 gene in an extended cancer family	Cancer Res	1933902
Metzger AK;Sheffield VC;Duyk G;Daneshvar L;Edwards MS;Cogen PH;	1991	Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma	Proc Natl Acad Sci U S A	1679237
Warneford SG;Witton LJ;Townsend ML;Rowe PB;Reddel RR;Dalla-Pozza L;Symonds G;	1992	Germ-line splicing mutation of the p53 gene in a cancer-prone family	Cell Growth Differ	1467311
Kovar H;Auinger A;Jug G;Muller T;Pillwein K;	1992	p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree	Oncogene	1359493
Borresen AL;Andersen TI;Garber J;Barbier-Piraux N;Thorlacius S;Eyfjord J;Ottestad L;Smith-Sorensen B;Hovig E;Malkin D;	1992	Screening for germ line TP53 mutations in breast cancer patients	Cancer Res	1591732
Coles C;Condie A;Chetty U;Steel CM;Evans HJ;Prosser J;	1992	p53 mutations in breast cancer	Cancer Res	1394133
Sidransky D;Tokino T;Helzlsouer K;Zehnbauer B;Rausch G;Shelton B;Prestigiacomo L;Vogelstein B;Davidson N;	1992	Inherited p53 gene mutations in breast cancer	Cancer Res	1581912
Prosser J;Porter D;Coles C;Condie A;Thompson AM;Chetty U;Steel CM;Evans HJ;	1992	Constitutional p53 mutation in a non-Li-Fraumeni cancer family	Br J Cancer	1562462
Malkin D;Jolly KW;Barbier N;Look AT;Friend SH;Gebhardt MC;Andersen TI;Borresen AL;Li FP;Garber J;	1992	Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms	N Engl J Med	1565144
Toguchida J;Yamaguchi T;Dayton SH;Beauchamp RL;Herrera GE;Ishizaki K;Yamamuro T;Meyers PA;Little JB;Sasaki MS;	1992	Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma	N Engl J Med	92228022
Porter DE;Holden ST;Steel CM;Cohen BB;Wallace MR;Reid R;	1992	A significant proportion of patients with osteosarcoma may belong to Li- Fraumeni cancer families	J Bone Joint Surg Br	1447251
Sameshima Y;Tsunematsu Y;Watanabe S;Tsukamoto T;Kawa-ha K;Hirata Y;Mizoguchi H;Sugimura T;Terada M;Yokota J;	1992	Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma	J Natl Cancer Inst	1569604
Felix CA;Nau MM;Takahashi T;Mitsudomi T;Chiba I;Poplack DG;Reaman GH;Cole DE;Letterio JJ;Whang-Peng J;	1992	Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia	J Clin Invest	1737852
Iavarone A;Matthay KK;Steinkirchner TM;Israel MA;	1992	Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma	Proc Natl Acad Sci U S A	1349175
Scott RJ;Krummenacher F;Mary JL;Weber W;Spycher M;Muller H;	1993	Hereditary p53 mutation in a patient with multiple tumors: significance for genetic counseling	Schweiz Med Wochenschr	8393584
Shiseki,M.; Nishikawa,R.; Yamamoto,H.; Ochiai,A.; Sugimura,H.; Shitara,N.; Sameshima,Y.; Mizoguchi,H.; Sugimura,T.; Yokota,J.	1993	Germ-line p53 mutation is uncommon in patients with triple primary cancers	Cancer Lett	8402598
Eeles RA;Warren W;Knee G;Bartek J;Averill D;Stratton MR;Blake PR;Tait DM;Lane DP;Easton DF;	1993	Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings	Oncogene	8479749
Felix CA;Strauss EA;D'Amico D;Tsokos M;Winter S;Mitsudomi T;Nau MM;Brown DL;Leahey AM;Horowitz ME;	1993	A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm	Oncogene	8479743
Brugieres L;Gardes M;Moutou C;Chompret A;Meresse V;Martin A;Poisson N;Flamant F;Bonaiti-Pellie C;Lemerle J;	1993	Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer	Cancer Res	8425176
Kupryjanczyk J;Thor AD;Beauchamp R;Merritt V;Edgerton SM;Bell DA;Yandell DW;	1993	p53 gene mutations and protein accumulation in human ovarian cancer	Proc Natl Acad Sci U S A	8506342
Birch JM;Hartley AL;Tricker KJ;Prosser J;Condie A;Kelsey AM;Harris M;Jones PH;Binchy A;Crowther D;	1994	Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families	Cancer Res	8118819
Gutierrez MI;Bhatia KG;Barreiro C;Spangler G;Schvartzmann E;Muriel FS;Magrath IT;	1994	A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors	Hum Mol Genet	7881428
Bardeesy N;Falkoff D;Petruzzi MJ;Nowak N;Zabel B;Adam M;Aguiar MC;Grundy P;Shows T;Pelletier J;	1994	Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations	Nat Genet	8075648
Horio Y;Suzuki H;Ueda R;Koshikawa T;Sugiura T;Ariyoshi Y;Shimokata K;Takahashi T;Takahashi T;	1994	Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation	Oncogene	8134126
Jolly KW;Malkin D;Douglass EC;Brown TF;Sinclair AE;Look AT;	1994	Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer	Oncogene	8302608
Mazoyer S;Lalle P;Moyret-Lalle C;Marcais C;Schraub S;Frappaz D;Sobol H;Ozturk M;	1994	Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations	Oncogene	8134127
Plummer SJ;Santibanez-Koref M;Kurosaki T;Liao S;Noble B;Fain PR;Anton-Culver H;Casey G;	1994	A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family	Oncogene	7936651
Stolzenberg MC;Brugieres L;Gardes M;Dessarps-Freichey F;Chompret A;Bressac B;Lenoir G;Bonaiti-Pellie C;Lemerle J;Feunteun J;	1994	Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family	Oncogene	8084585
McIntyre JF;Smith-Sorensen B;Friend SH;Kassell J;Borresen AL;Yan YX;Russo C;Sato J;Barbier N;Miser J;	1994	Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma	J Clin Oncol	8164043
Grayson GH;Moore S;Schneider BG;Saldivar V;Hensel CH;	1994	Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma	Am J Pediatr Hematol Oncol	7978053
Kyritsis AP;Bondy ML;Xiao M;Berman EL;Cunningham JE;Lee PS;Levin VA;Saya H;	1994	Germline p53 gene mutations in subsets of glioma patients	J Natl Cancer Inst	94141961
Wagner J;Portwine C;Rabin K;Leclerc JM;Narod SA;Malkin D;	1994	High frequency of germline p53 mutations in childhood adrenocortical cancer	J Natl Cancer Inst	7966399
Hamelin R;Barichard F;Henry I;Junien C;Thomas G;	1994	Single base pair germ-line deletion in the p53 gene in a cancer predisposed family	Hum Genet	8034301
Diller L;Sexsmith E;Gottlieb A;Li FP;Malkin D;	1995	Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma	J Clin Invest	7706467
Li YJ;Sanson M;Hoang-Xuan K;Delattre JY;Poisson M;Thomas G;Hamelin R;	1995	Incidence of germ-line p53 mutations in patients with gliomas	Int J Cancer	8550239
MacGeoch C;Turner G;Bobrow LG;Barnes DM;Bishop DT;Spurr NK;	1995	Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining	J Med Genet	7783166
Lubbe J;von Ammon K;Watanabe K;Hegi ME;Kleihues P;	1995	Familial brain tumour syndrome associated with a p53 germline deletion of codon 236	Brain Pathol	7767487
Bang YJ;Kang SH;Kim TY;Jung CW;Oh SM;Choe KJ;Kim NK;	1995	The first documentation of Li-Fraumeni syndrome in Korea	J Korean Med Sci	8527048
Shay JW;Tomlinson G;Piatyszek MA;Gollahon LS;	1995	Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome	Mol Cell Biol	7799951
Felix CA;Slavc I;Dunn M;Strauss EA;Phillips PC;Rorke LB;Sutton L;Bunin GR;Biegel JA;	1995	p53 gene mutations in pediatric brain tumors	Med Pediatr Oncol	7565304
Strauss EA;Hosler MR;Herzog P;Salhany K;Louie R;Felix CA;	1995	Complex replication error causes p53 mutation in a Li-Fraumeni family	Cancer Res	7614454
Frebourg T;Barbier N;Yan YX;Garber JE;Dreyfus M;Fraumeni J Jr;Li FP;Friend SH;	1995	Germ-Line p53 mutations in 15 families with Li-Fraumeni syndrome	Am J Hum Genet	7887414
Chen P;Iavarone A;Fick J;Edwards M;Prados M;Israel MA;	1995	Constitutional p53 mutations associated with brain tumors in young adults	Cancer Genet Cytogenet	7664239
Flaman JM;Frebourg T;Moreau V;Charbonnier F;Martin C;Chappuis P;Sappino APLIM;Bron L;Benhattar J;Tada M;Van Meir EG;Estreicher A;Iggo RD;	1995	A simple p53 functional assay for screening cell lines, blood, and tumors	Proc Natl Acad Sci U S A	7732013
Dockhorn-Dworniczak B;Wolff J;Poremba C;Schafer KL;Ritter J;Gullotta F;Jurgens H;Bocker W;	1996	A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome	Eur J Cancer	8869100
Giunta C;Youil R;Venter D;Chow CW;Somers G;Lafferty A;Kemper B;Cotton RG;	1996	Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method	Diagn Mol Pathol	8955618
Varley JM;McGown G;Thorncroft M;Cochrane S;Morrison P;Woll P;Kelsey AM;Mitchell EL;Boyle J;Birch JM;Evans DG;	1996	A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome	Oncogene	8649785
Sun,X.F.; Johannsson,O.; Hakansson,S.; Sellberg,G.; Nordenskjold,B.; Olsson,H.; Borg,A.	1996	A novel p53 germline alteration identified in a late onset breast cancer kindred	Oncogene	8710380
Speiser P;Gharehbaghi-Schnell E;Eder S;Haid A;Kovarik J;Nenutil R;Sauter G;Schneeberger CH;Vojtesek B;Wiltschke CH;Zeillinger R;	1996	A constitutional de novo mutation in exon 8 of the p53 gene in a patient with multiple primary malignancies	Br J Cancer	8688334
Felix CA;Hosler MR;Provisor D;Salhany K;Sexsmith EA;Slater DJ;Cheung NK;Winick NJ;Strauss EA;Heyn R;Lange BJ;Malkin D;	1996	The p53 gene in pediatric therapy-related leukemia and myelodysplasia	Blood	8639798
Varley JM;Thorncroft M;McGown G;Tricker K;Birch JM;Evans DG;	1996	A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni- like syndrome, and LOH in a benign lesion from a mutation carrier	Cancer Genet Cytogenet	8780740
Cornelis RS;van Vliet M;van de Vijver MJ;Vasen HF;Voute PA;Top B;Khan PM;Devilee P;Cornelisse CJ;	1997	Three germline mutations in the TP53 gene	Hum Mutat	9067756
Lomax ME;Barnes DM;Gilchrist R;Picksley SM;Varley JM;Camplejohn RS;	1997	Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family	Oncogene	9150393
Avigad S;Barel D;Blau O;Malka A;Zoldan M;Mor C;Fogel M;Cohen IJ;Stark B;Goshen Y;Stein J;Zaizov R;	1997	A novel germ line p53 mutation in intron 6 in diverse childhood malignancies	Oncogene	9129144
Ponten F;Berg C;Ahmadian A;Ren ZP;Nister M;Lundeberg J;Uhlen M;Ponten J;	1997	Molecular pathology in basal cell cancer with p53 as a genetic marker	Oncogene	9285560
Goi K;Takagi M;Iwata S;Delia D;Asada M;Donghi R;Tsunematsu Y;Nakazawa S;Yamamoto H;Yokota J;Tamura K;Saeki Y;Utsunomiya J;Takahashi T;Ueda R;Ishioka C;Eguchi M;Kamata N;Mizutani S;	1997	DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation	Cancer Res	9157982
Varley JM;McGown G;Thorncroft M;Santibanez-Koref MF;Kelsey AM;Tricker KJ;Evans DG;Birch JM;	1997	Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families	Cancer Res	9242456
Saeki Y;Tamura K;Yamamoto Y;Hatada T;Furuyama J;Utsunomiya J;	1997	Germline p53 mutation at codon 133 in a cancer-prone family	J Mol Med	9020384
Orellana C;Martinez F;Hernandez-Marti M;Castel V;Canete A;Prieto F;Badia L;	1998	A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father	Cancer Genet Cytogenet	9723024
Luca JW;Strong LC;Hansen MF;	1998	A germline missense mutation R337C in exon 10 of the human p53 gene	Hum Mutat	9452042
Bot FJ;Sleddens HF;Dinjens WN;	1998	Molecular assessment of clonality leads to the identification of a new germ line TP53 mutation associated with malignant cystosarcoma phyllodes and soft tissue sarcoma	Diagn Mol Pathol	10207667
Ayan I;Luca JW;Jaffe N;Yazici H;Ekmekcioglu S;Hansen MF;	1998	Germline mutations of the p53 gene in children with malignant solid tumors	J Exp Clin Cancer Res	10089074
Murakawa Y;Yokoyama A;Kato S;Yoshioka T;Ichinohasama R;Kumabe T;Yoshimoto T;Ishioka C;Kanamaru R;	1998	Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation	Jpn J Clin Oncol	9839505
Pivnick EK;Furman WL;Velagaleti GV;Jenkins JJ;Chase NA;Ribeiro RC;	1998	Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation	J Med Genet	9598730
Reifenberger J;Janssen G;Weber RG;Bostrom J;Engelbrecht V;Lichter P;Borchard F;Gobel U;Lenard HG;Reifenberger G;	1998	Primitive neuroectodermal tumors of the cerebral hemispheres in two siblings with TP53 germline mutation	J Neuropathol Exp Neurol	9600210
Vital A;Bringuier PP;Huang H;San Galli F;Rivel J;Ansoborlo S;Cazauran JM;Taillandier L;Kleihues P;Ohgaki H;	1998	Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations	J Neuropathol Exp Neurol	9825943
Sedlacek,Z.; Kodet,R.; Seemanova,E.; Vodvarka,P.; Wilgenbus,P.; Mares,J.; Poustka,A.; Goetz,P.	1998	Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours	Br J Cancer	9569035
Felix CA;Megonigal MD;Chervinsky DS;Leonard DG;Tsuchida N;Kakati S;Block AM;Fisher J;Grossi M;Salhany KI;Jani-Sait SN;Aplan PD;	1998	Association of germline p53 mutation with MLL segmental jumping translocation in treatment-related leukemia	Blood	9616138
Barel D;Avigad S;Mor C;Fogel M;Cohen IJ;Zaizov R;	1998	A novel germ-line mutation in the noncoding region of the p53 gene in a Li-Fraumeni family	Cancer Genet Cytogenet	9595036
Huusko P;Castren K;Launonen V;Soini Y;Paakkonen K;Leisti J;Vahakangas K;Winqvist R;	1999	Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2	Cancer Genet Cytogenet	10432928
Sugano K;Taniguchi T;Saeki M;Tsunematsu Y;Tomaru U;Shimoda T;	1999	Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer	Jpn J Clin Oncol	10645809
Guran S;Tunca Y;Imirzalioglu N;	1999	Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family	Cancer Genet Cytogenet	10484981
Hung J;Mims B;Lozano G;Strong L;Harvey C;Chen TT;Stastny V;Tomlinson G;	1999	TP53 mutation and haplotype analysis of two large African American families	Hum Mutat	10477429
Quesnel S;Verselis S;Portwine C;Garber J;White M;Feunteun J;Malkin D;Li FP;	1999	p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome	Oncogene	99361973
Ishii N;Tada M;Hamou MF;Janzer RC;Meagher-Villemure K;Wiestler OD;Tribolet N;Van Meir EG;	1999	Cells with TP53 mutations in low grade astrocytic tumors evolve clonally to malignancy and are an unfavorable prognostic factor	Oncogene	10557074
Yonemoto T;Tatezaki S;Ishii T;Satoh T;Inoue M;	1999	Two cases of osteosarcoma occurring as second malignancy of childhood cancer	Anticancer Res	10697617
Auer H;Warncke K;Nowak D;Koops F;Jaeger U;Kurzbauer R;Ruediger HW;	1999	Variations of p53 in cultured fibroblasts of patients with lung cancer who have a presumed genetic predisposition	Am J Clin Oncol	10362336
Zhou XP;Sanson M;Hoang-Xuan K;Robin E;Taillandier L;He J;Mokhtari K;Cornu P;Delattre JY;Thomas G;Hamelin R;	1999	Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Francaise	Ann Neurol	10589545
Varley JM;McGown G;Thorncroft M;James LA;Margison GP;Forster G;Evans DG;Harris M;Kelsey AM;Birch JM;	1999	Are There Low-Penetrance TP53 Alleles? Evidence from Childhood Adrenocortical Tumors	Am J Hum Genet	10486318
Gallo O;Sardi I;Pepe G;Franchi A;Attanasio M;Giusti B;Bocciolini C;Abbate R;	1999	Multiple primary tumors of the upper aerodigestive tract: is there a role for constitutional mutations in the p53 gene?	Int J Cancer	10389749
Eeles RA;	2000	Personnal communication	Unpublished
Grzybowska E;Zientek H;Jasinska A;Rusin M;Kozlowski P;Sobczak K;Sikorska A;Kwiatkowska E;Gorniak L;Kalinowska E;Utracka-Hutka B;Wloch J;Chmielik E;Krzyzosiak WJ;	2000	High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer	Hum Mutat	11102977
Verselis SJ;Rheinwald JG;Fraumeni JF;Li FP;	2000	Novel p53 splice site mutations in three families with Li-Fraumeni syndrome	Oncogene	10980596
Zajac V;Tomka M;Ilencikova D;Majek P;Stevurkova V;Kirchhoff T;	2000	A double germline mutations in the APC and p53 genes	Neoplasma	11263856
Chompret A;Brugieres L;Ronsin M;Gardes M;Dessarps-Freichey F;Abel A;Hua D;Ligot L;Dondon MG;Bressac-de Paillerets B;Frebourg T;Lemerle J;Bonaiti-Pellie C;Feunteun J;	2000	P53 germline mutations in childhood cancers and cancer risk for carrier individuals	Br J Cancer	10864200
Tachibana I;Smith JS;Sato K;Hosek SM;Kimmel DW;Jenkins RB;	2000	Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma	Am J Med Genet	10797439
Vahteristo P;Tamminen A;Karvinen P;Eerola H;Eklund C;Aaltonen LA;Blomqvist C;Aittomaki K;Nevanlinna H;	2001	p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition	Cancer Res	11479205
Parham DM;Eccles DM;	2001	Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome	Breast	14965603
Malkin D;Chilton-MacNeill S;Meister LA;Sexsmith E;Diller L;Garcea RL;	2001	Tissue-specific expression of SV40 in tumors associated with the Li- Fraumeni syndrome	Oncogene	11494139
Varley,J.M.; Attwooll,C.; White,G.; McGown,G.; Thorncroft,M.; Kelsey,A.M.; Greaves,M.; Boyle,J.; Birch,J.M.	2001	Characterization of germline TP53 splicing mutations and their genetic and functional analysis	Oncogene	11420676
Kimura K;Shinmura K;Hasegawa T;Beppu Y;Yokoyama R;Yokota J;	2001	Germline p53 mutation in a patient with multiple primary cancers	Jpn J Clin Oncol	11518751
Bougeard G;Limacher JM;Martin C;Charbonnier F;Killian A;Delattre O;Longy M;Jonveaux P;Fricker JP;Stoppa-Lyonnet D;Flaman JM;Frebourg T;	2001	Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome	J Med Genet	11370630
Rapakko K;Allinen M;Syrjakoski K;Vahteristo P;Huusko P;Vahakangas K;Eerola H;Kainu T;Kallioniemi OP;Nevanlinna H;Winqvist R;	2001	Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites	Br J Cancer	11139324
Latronico AC;Pinto EM;Domenice S;Fragoso MC;Martin RM;Zerbini MC;Lucon AM;Mendonca BB;	2001	An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors	J Clin Endocrinol Metab	11600572
Joachim T;Ram Z;Rappaport ZH;Simon M;Schramm J;Wiestler OD;von Deimling A;	2001	Comparative analysis of the NF2, TP53, PTEN, KRAS, NRAS and HRAS genes in sporadic and radiation-induced human meningiomas	Int J Cancer	11668501
Ribeiro RC;Sandrini F;Figueiredo B;Zambetti GP;Michalkiewicz E;Lafferty AR;DeLacerda L;Rabin M;Cadwell C;Sampaio G;Cat I;Stratakis CA;Sandrini R;	2001	An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma	Proc Natl Acad Sci U S A	11481490
Patrikidou A;Bennett J;Abou-Sleiman P;Delhanty JD;Harris M;	2002	A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla	Oral Oncol	12076704
Schaefer KL;Wai D;Poremba C;Diallo R;Boecker W;Dockhorn-Dworniczak B;	2002	Analysis of TP53 germline mutations in pediatric tumor patients using DNA microarray-based sequencing technology	Med Pediatr Oncol	11920788
Rutherford J;Chu CE;Duddy PM;Charlton RS;Chumas P;Taylor GR;Lu X;Barnes DM;Camplejohn RS;	2002	Investigations on a clinically and functionally unusual and novel germline p53 mutation	Br J Cancer	12085209
Balmana J;Nomdedeu J;Diez O;Sabate JM;Balil A;Pericay C;Lopez Lopez JJ;Brunet J;Baiget M;Alonso C;	2002	Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers	Med Clin (Barc)	12406399
Potzsch C;Voigtlander T;Lubbert M;	2002	p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies	J Cancer Res Clin.Oncol	12200603
Lalloo F;Varley J;Ellis D;Moran A;O'Dair L;Pharoah P;Evans DG;	2003	Prediction of pathogenic mutations in patients with early-onset breast cancer by family history	Lancet	12672316
Trkova M;Foretova L;Kodet R;Hedvicakova P;Sedlacek Z;	2003	A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors	Cancer Genet Cytogenet	12885464
Hwang SJ;Lozano G;Amos CI;Strong LC;	2003	Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk	Am J Hum Genet	12610779
Pepper C;Thomas A;Hoy T;Tighe J;Culligan D;Fegan C;Bentley P;	2003	Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol	Cell Cycle	12695689
Nichols KE;Heath JA;Friedman D;Biegel JA;Ganguly A;Mauch P;Diller L;	2003	TP53, BRCA1, and BRCA2 Tumor Suppressor Genes Are Not Commonly Mutated in Survivors of Hodgkin's Disease With Second Primary Neoplasms	J Clin Oncol	14673037
Bougeard G;Brugieres L;Chompret A;Gesta P;Charbonnier F;Valent A;Martin C;Raux G;Feunteun J;Bressac-de Paillerets B;Frebourg T;	2003	Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene	Oncogene	12584563
Patino-Garcia A;Pineiro ES;Diez MZ;Iturriagagoitia LG;Klussmann FA;Ariznabarreta LS;	2003	Genetic and epigenetic alterations of the cell cycle regulators and tumor suppressor genes in pediatric osteosarcomas	J Pediatr Hematol Oncol	12759621
Wong SS;Lozano G;Gaff CL;Gardner RJ;Strong LC;Aittomaki K;Lindeman GJ;	2003	Novel p53 germline mutation in a patient with Li-Fraumeni syndrome	Intern Med J	14656244
Martin AM;Kanetsky PA;Amirimani B;Colligon TA;Athanasiadis G;Shih HA;Gerrero MR;Calzone K;Rebbeck TR;Weber BL;	2003	Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?	J Med Genet	12676907
Miyaki M;Iijima T;Ohue M;Kita Y;Hishima T;Kuroki T;Iwama T;Mori T;	2003	A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours	Gut	12524418
Lynch HT;Deters CA;Hogg D;Lynch JF;Kinarsky Y;Gatalica Z;	2003	Familial sarcoma: challenging pedigrees	Cancer	14584079
Bendig I;Mohr N;Kramer F;Weber BH;	2004	Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin	Cancer Genet Cytogenet	15381368
Suarez CR;Bertolone SJ;Raj AB;Coventry S;	2004	Second malignant neoplasms in childhood acute lymphoblastic leukemia: primitive neuroectodermal tumor of the chest wall with germline p53 mutation as a second malignant neoplasm	Am J Hematol	15114597
Sarin R;	2004	Personnal communication	Unpublished
Nogales FF;Musto ML;Saez AI;Robledo M;Palacios J;Aneiros J;	2004	Multifocal intrafollicular granulosa cell tumor of the ovary associated with an unusual germline p53 mutation	Mod Pathol	15073606
Avigad S;Peleg D;Barel D;Benyaminy H;Ben Baruch N;Taub E;Shohat M;Goshen Y;Cohen IJ;Yaniv I;Zaizov R;	2004	Prenatal diagnosis in Li-Fraumeni syndrome	J Pediatr Hematol Oncol	15342977
Yonemoto T;Tatezaki S;Ishii T;Hagiwara Y;Inoue M;	2004	Multiple primary cancers in patients with osteosarcoma: influence of anticancer drugs and genetic factors	Am J Clin Oncol	15170137
Oliveira C;Ferreira P;Nabais S;Campos L;Ferreira A;Cirnes L;Alves CC;Veiga I;Fragoso M;Regateiro F;Dias LM;Moreira H;Suriano G;Machado JC;Lopes C;Castedo S;Carneiro F;Seruca R;	2004	E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients	Eur J Cancer	15288293
Keller G;Vogelsang H;Becker I;Plaschke S;Ott K;Suriano G;Mateus AR;Seruca R;Biedermann K;Huntsman D;Doring C;Holinski-Feder E;Neutzling A;Siewert JR;Hofler H;	2004	Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients	J Med Genet	15173255
Khayat CM;Johnston DL;	2004	Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation	Pediatr Blood Cancer	15390294
Kim IJ;Kang HC;Shin Y;Park HW;Jang SG;Han SY;Lim SK;Lee MR;Chang HJ;Ku JL;Yang HK;Park JG;	2004	A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome	J Hum Genet	15368100
Hedau S;Jain N;Husain SA;Mandal AK;Ray G;Shahid M;Kant R;Gupta V;Shukla NK;Deo SS;Das BC;	2004	Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India	Breast Cancer Res Treat	15564800
Guran S;Ozet A;Dede M;Gille JJ;Yenen MC;	2005	Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis	Cancer Genet Cytogenet	15993273
Rieske P;Zakrzewska M;Biernat W;Bartkowiak J;Zimmermann A;Liberski PP;	2005	Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome	J Neurooncol	15719270
Sandrini F;Villani DP;Tucci S;Moreira AC;de Castro M;Elias LL;	2005	Inheritance of R337H p53 gene mutation in children with sporadic adrenocortical tumor	Horm Metab Res	15952083
Chao MM;Levine JE;Ruiz RE;Kohlmann WK;Bower MA;Petty EM;Mody RJ;	2005	Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation	Pediatr Blood Cancer	16333835
Siddiqui R;Onel K;Facio F;Nafa K;Diaz LR;Kauff N;Huang H;Robson M;Ellis N;Offit K;	2005	The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds	Fam Cancer	15951970
Capponcelli S;Pedrini E;Cerone MA;Corti V;Fontanesi S;Alessio M;Bachi A;Soddu S;Ribatti D;Picci P;Helman LJ;Cantelli-Forti G;Sangiorgi L;	2005	Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation	Hum Mutat	15977174
Cavalier ME;Davis MM;Croop JM;	2005	Germline p53 mutation presenting as synchronous tumors	J Pediatr Hematol Oncol	16096528
Dickens DS;Dothage JA;Heideman RL;Ballard ET;Jubinsky PT;	2005	Successful treatment of an unresectable choroid plexus carcinoma in a patient with Li-Fraumeni syndrome	J Pediatr Hematol Oncol	15654279
Guran S;Beyan C;Nevruz O;Yakicier C;Tunca Y;	2005	A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family	Clin Lab Haematol	15784129
Krutilkova V;Trkova M;Fleitz J;Gregor V;Novotna K;Krepelova A;Sumerauer D;Kodet R;Siruckova S;Plevova P;Bendova S;Hedvicakova P;Foreman NK;Sedlacek Z;	2005	Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations	Eur J Cancer	15925506
Kuribayashi K;Matsunaga T;Sakai T;Wada Y;Tateno K;Murase K;Fujimi A;Takimoto R;Terui T;Kato J;Sasaki A;Satoh M;Niitsu Y;	2005	A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer	Intern Med	15942101
Roque L;Lacerda A;Rodrigues R;Almeida O;Salgueiro J;Pinto C;	2005	CGH evalution of two de novo synchronous tumors in a child with a germline p53 mutation	Pediatr Blood Cancer	16206219
Poli T;Lagana F;Caradonna L;Gobbi R;Corradi D;Sesenna E;	2005	Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome: a case report	Tumori	15850016
Wong P;Verselis SJ;Garber JE;Schneider K;DiGianni L;Stockwell DH;Li FP;Syngal S;	2006	Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome	Gastroenterology	16401470
Walsh T;Casadei S;Coats KH;Swisher E;Stray SM;Higgins J;Roach KC;Mandell J;Lee MK;Ciernikova S;Foretova L;Soucek P;King MC;	2006	Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer	JAMA	16551709
West AN;Ribeiro RC;Jenkins J;Rodriguez-Galindo C;Figueiredo BC;Kriwacki R;Zambetti GP;	2006	Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma	Cancer Res	16707427
Stecher CW;Gronbaek K;Hasle H;	2006	A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor	Pediatr Blood Cancer	17066464
Ruijs MW;Verhoef S;Wigbout G;Pruntel R;Floore AN;de Jong D;van T;Menko FH;	2006	Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation	Fam Cancer	16736287
Anensen N;Skavland J;Stapnes C;Ryningen A;Borresen-Dale AL;Gjertsen BT;Bruserud O;	2006	Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report	Leukemia	16437140
Lefrou L;Godart B;de Muret A;Scotto B;Dorval E;	2006	[Germline tp53 neomutation in a patient with li-fraumeni syndrome and pancreatic adenocarcinoma]	Gastroenterol Clin Biol	16633321
Figueiredo BC;Sandrini R;Zambetti GP;Pereira RM;Cheng C;Liu W;Lacerda L;Pianovski MA;Michalkiewicz E;Jenkins J;Rodriguez-Galindo C;Mastellaro MJ;Vianna S;Watanabe F;Sandrini F;Arram SB;Boffetta P;Ribeiro RC;	2006	Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation	J Med Genet	16033918
Krasteva ME;Georgieva EI;	2006	Germline p53 single-base changes associated with Balkan endemic nephropathy	Biochem Biophys Res Commun	16487937
Vranic S;Kapur L;Foco F;Bilalovic N;Hainaut P;	2006	The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report	Pathologica	16929790
Achatz MI;Olivier M;Calvez FL;Martel-Planche G;Lopes A;Rossi BM;Ashton-Prolla P;Giugliani R;Palmero EI;Vargas FR;Rocha JC;Vettore AL;Hainaut P;	2007	The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families	Cancer Lett	16494995
Idbaih A;Boisselier B;Sanson M;Criniere E;Liva S;Marie Y;Carpentier C;Paris S;Laigle-Donadey F;Mokhtari K;Kujas M;Hoang-Xuan K;Delattre O;Delattre JY;	2007	Tumor genomic profiling and TP53 germline mutation analysis of first-degree relative familial gliomas	Cancer Genet Cytogenet	17656254
Tabori U;Nanda S;Druker H;Lees J;Malkin D;	2007	Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome	Cancer Res	17308077
Monnerat C;Chompret A;Kannengiesser C;Avril MF;Janin N;Spatz A;Guinebretiere JM;Marian C;Barrois M;Boitier F;Lenoir GM;Bressac-de Paillerets B;	2007	BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma	Fam Cancer	17624602
Schiffman JD;Chun N;Fisher PG;Dahl GV;Ford JM;Eggerding FA;	2007	Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family	Pediatr Blood Cancer	17554785
Rossbach HC;Baschinsky D;Wynn T;Obzut D;Sutcliffe M;Tebbi C;	2007	Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation	Pediatr Blood Cancer	17427234
van Hest LP;Ruijs MW;Wagner A;van der Meer CA;Verhoef S;Van't Veer LJ;Meijers-Heijboer H;	2007	Two TP53 germline mutations in a classical Li-Fraumeni syndrome family	Fam Cancer	17318340
Senzer N;Nemunaitis J;Nemunaitis M;Lamont J;Gore M;Gabra H;Eeles R;Sodha N;Lynch FJ;Zumstein LA;Menander KB;Sobol RE;Chada S;	2007	p53 therapy in a patient with Li-Fraumeni syndrome	Mol Cancer Ther	17483435
Bemis LT;Robinson WA;McFarlane R;Buyers E;Kelly K;Varella-Garcia M;Mitchell JD;Franklin WA;	2007	EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome	Lancet Oncol	17540308
Veschi S;Aceto G;Scioletti AP;Gatta V;Palka G;Cama A;Mariani-Costantini R;Battista P;Calo V;Barbera F;Bazan V;Russo A;Stuppia L;	2007	High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability	Ann Oncol	17591842
Salmon A;Amikam D;Sodha N;Davidson S;Basel-Vanagaite L;Eeles RA;Abeliovich D;Peretz T;	2007	Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline 'De-Novo'TP53 Mutation	Clin Oncol (R Coll Radiol )	17572079
Suarez-Martinez EB;Ruiz A;Matias J;Morales L;Cruz A;Vazquez D;Villa J;Matta JL;	2007	Early-onset of sporadic basal-cell carcinoma: germline mutations in the TP53, PTCH, and XPD genes	P R Health Sci J	18246963
Yamada H;Shinmura K;Okudela K;Goto M;Suzuki M;Kuriki K;Tsuneyoshi T;Sugimura H;	2007	Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population	Carcinogenesis	17690113
Manoukian S;Peissel B;Pensotti V;Barile M;Cortesi L;Stacchiotti S;Terenziani M;Barbera F;Pasquini G;Frigerio S;Pierotti MA;Radice P;Della-Torre G;	2007	Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families	Eur J Cancer	17224268
Trahair T;Andrews L;Cohn RJ;	2007	Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma	Pediatr Blood Cancer	16534790
Trkova M;Prochazkova K;Krutilkova V;Sumerauer D;Sedlacek Z;	2007	Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age	Cancer	17567834
Arcand SL;Maugard CM;Ghadirian P;Robidoux A;Perret C;Zhang P;Fafard E;Mes-Masson AM;Foulkes WD;Provencher D;Narod SA;Tonin PN;	2008	Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families	Breast Cancer Res Treat	17541742
Prochazkova K;Foretova L;Sedlacek Z;	2008	A rare tumor and an ethical dilemma in a family with a germline TP53 mutation	Cancer Genet Cytogenet	18068537
Palmero EI;Schuler-Faccini L;Caleffi M;Achatz MI;Olivier M;Martel-Planche G;Marcel V;Aguiar E;Giacomazzi J;Ewald IP;Giugliani R;Hainaut P;shton-Prolla P;	2008	Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil	Cancer Lett	18248785
Ariffin H;Martel-Planche G;Daud SS;Ibrahim K;Hainaut P;	2008	Li-Fraumeni syndrome in a Malaysian kindred	Cancer Genet Cytogenet	18786442
Plon SE;Pirics ML;Nuchtern J;Hicks J;Russell H;Agrawal S;Zbuk K;Eng C;Hegde M;Chin EL;	2008	Multiple tumors in a child with germ-line mutations in TP53 and PTEN	N Engl J Med	18669439
Assumpcao JG;Seidinger AL;Mastellaro MJ;Ribeiro RC;Zambetti GP;Ganti R;Srivastava K;Shurtleff S;Pei D;Zeferino LC;Dufloth RM;Brandalise SR;Yunes JA;	2008	Association of the germline TP53 R337H mutation with breast cancer in southern Brazil	BMC Cancer	19046423
Izawa N;Matsumoto S;Manabe J;Tanizawa T;Hoshi M;Shigemitsu T;Machinami R;Kanda H;Takeuchi K;Miki Y;Arai M;Shirahama S;Kawaguchi N;	2008	A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene	Int J Clin Oncol	18307025
Hwang SM;Lee ES;Shin SH;Kong SY;	2008	Genetic counseling can influence the course of a suspected familial cancer syndrome patient: from a case of Li-Fraumeni like syndrome with a germline mutation in the TP53 gene	Korean J Lab Med	19127115
Delaney HM;Prauner RD;Person DA;	2008	Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma	J Pediatr Hematol Oncol	18989156
Becherini F;Castagna M;Iannelli A;Favre C;Abbruzzese A;Caligo MA;Bertacca G;Pingitore R;Bevilacqua G;Cavazzana AO;	2008	Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation	Neuropathol Appl Neurobiol	18208484
Agarwalla PK;Dunn IF;Turner CD;Ligon KL;Schneider KA;Smith ER;	2008	A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature	Pediatr Neurosurg	19127094
Russell-Swetek A;West AN;Mintern JE;Jenkins J;Rodriguez-Galindo C;Ribeiro R;Zambetti GP;	2008	Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma	J Med Genet	18762572
Bougeard G;Sesboue R;Baert-Desurmont S;Vasseur S;Martin C;Tinat J;Brugieres L;Chompret A;de Paillerets BB;Stoppa-Lyonnet D;Bonaiti-Pellie C;Frebourg T;	2008	Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families	J Med Genet	18511570
Yamada H;Shinmura K;Yamamura Y;Kurachi K;Nakamura T;Tsuneyoshi T;Yokota N;Maekawa M;Sugimura H;	2009	Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer	Int J Cancer	19405127
Valva P;Becker P;Streitemberger P;Lombardi GM;Rey G;Guzman CA;Preciado MV;	2009	Germline TP53 mutations and single nucleotide polymorphisms in children	Medicina (B Aires)	19414295
Janavicius R;	2009	Direct Submission	Unpublished
Verma I;Hainaut P;	2009	IARC data	Unpublished
Ariffin H;Hainaut P;	2009	IARC data	Unpublished
Vranic S;Hainaut P;	2009	IARC data	Unpublished
Ginsburg OM;Akbari MR;Aziz Z;Young R;Lynch H;Ghadirian P;Robidoux A;Londono J;Vasquez G;Gomes M;Costa MM;Dimitrakakis C;Gutierrez G;Pilarski R;Royer R;Narod SA;	2009	The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30	Fam Cancer	19714488
Ko JH;Lee HS;Hong J;Hwang JS;	2009	Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation	Eur J Pediatr	19701813
Pinto C;Veiga I;Pinheiro M;Peixoto A;Pinto A;Lopes JM;Reis RM;Oliveira C;Baptista M;Roque L;Regateiro F;Cirnes L;Hofstra RM;Seruca R;Castedo S;Teixeira MR;	2009	TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset	Fam Cancer	19468865
Schniederjan MJ;Shehata B;Brat DJ;Esiashvili N;Janss AJ;	2009	De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system	Pediatr Blood Cancer	19711436
Shin HJ;Kwon YJ;Lim YJ;Park BK;Ghim TT;Shin SH;Kong SY;Hong EK;Park HJ;	2009	Family of Li-Fraumeni Syndrome with a Germline Mutation in the p53 Gene	Clin Pediatr Hematol Oncol
Taja-Chayeb L;Vidal-Millan S;Gutierrez-Hernandez O;Trejo-Becerril C;Perez-Cardenas E;Chavez-Blanco A;de lC;Duenas-Gonzalez A;	2009	Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome	World J Surg Oncol	20017945
Fiszer-Maliszewska L;Kazanowska B;Padzik J;	2009	p53 tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma	Fam Cancer	19714490
Marcel V;Palmero EI;Falagan-Lotsch P;Martel-Planche G;shton-Prolla P;Olivier M;Brentani RR;Hainaut P;Achatz MI;	2009	TP53PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis	J Med Genet	19542078
Schwarzbraun T;Obenauf AC;Langmann A;Gruber-Sedlmayr U;Wagner K;Speicher MR;Kroisel PM;	2009	Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing	J Med Genet	19269943
Gonzalez KD;Buzin CH;Noltner KA;Gu D;Li W;Malkin D;Sommer SS;	2009	High frequency of de novo mutations in Li-Fraumeni syndrome	J Med Genet	19556618
Rieber J;Remke M;Hartmann C;Korshunov A;Burkhardt B;Sturm D;Mechtersheimer G;Wittmann A;Greil J;Blattmann C;Witt O;Behnisch W;Halatsch ME;Orakcioglu B;von DA;Lichter P;Kulozik A;Pfister S;	2009	Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome	Genes Chromosomes Cancer	19378321
Lin MT;Shieh JJ;Chang JH;Chang SW;Chen TC;Hsu WH;	2009	Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome	Pediatr Blood Cancer	19101993
Capra V;Consales A;Nozza P;Monti P;Inga A;Fronza G;	2009	Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family	Pediatr Blood Cancer	18937320
Ang P;Lim IH;Yong RY;Lee AS;	2009	A molecular approach for identifying individuals with Li-Fraumeni syndrome who have a limited family history	Clin Genet	19250386
Si N;Sun M;Lu CX;Liu YS;Qi Z;Yang W;Zhao XL;Zhang X;	2009	[Identification of a novel TP53 germline mutation in one child with adrenocortical carcinoma.]	Zhonghua Yi Xue Za Zhi	19671334
Cao AY;Jin W;Shi PC;Di GH;Shen ZZ;Shao ZM;	2009	Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population	Breast Cancer Res Treat	19238535
Xian W;Miron A;Roh M;Semmel DR;Yassin Y;Garber J;Oliva E;Goodman A;Mehra K;Berkowitz RS;Crum CP;Quade BJ;	2010	The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube	J Pathol	19834951
Landolsi S;Gharbi O;Zrig M;Gribaa M;Njim L;Zakhama A;Abid A;Frebourg T;Ahmed SB;	2010	Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation	Ann Biol Clin (Paris)	20478780
Mouchawar J;Korch C;Byers T;Pitts TM;Li E;McCredie MR;Giles GG;Hopper JL;Southey MC;	2010	Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study	Cancer Res	20501846
Saxena R;Kohli S;Guleria K;Verma IC;	2010	Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome	Hum Genet	21488255
Pinto EM;Ribeiro RC;Kletter GB;Lawrence JP;Jenkins JJ;Wang J;Shurtleff S;McGregor L;Kriwacki RW;Zambetti GP;	2010	Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor	Fam Cancer	20967502
Heymann S;Delaloge S;Rahal A;Caron O;Frebourg T;Barreau L;Pachet C;Mathieu MC;Marsiglia H;Bourgier C;	2010	Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome	Radiat Oncol	21059199
Robertson LB;Armstrong GN;Olver BD;Lloyd AL;Shete S;Lau C;Claus EB;Barnholtz-Sloan J;Lai R;Il'yasova D;Schildkraut J;Bernstein JL;Olson SH;Jenkins RB;Yang P;Rynearson AL;Wrensch M;McCoy L;Wienkce JK;McCarthy B;Davis F;Vick NA;Johansen C;Bodtcher H;Sadetzk	2010	Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation	Fam Cancer	20455025
Debelenko LV;Perez-Atayde AR;Dubois SG;Grier HE;Pai SY;Shamberger RC;Kozakewich HP;	2010	p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome	Pediatr Dev Pathol	20028212
Karakas Z;Tugcu D;Unuvar A;Atay D;Akcay A;Gedik H;Kayserili H;Dogan O;Anak S;Devecioglu O;	2010	Li-Fraumeni syndrome in a Turkish family	Pediatr Hematol Oncol	20426520
De Moura J;Kavalec FL;Doghman M;Rosati R;Custodio G;Lalli E;Cavallari GM;Santa MJ;Figueiredo BC;	2010	Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage	Int J Oncol	20198344
Ide H;Terado Y;Tokiwa S;Nishio K;Saito K;Isotani S;Kamiyama Y;Muto S;Imamura T;Horie S;	2010	Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker	Jpn J Clin Oncol	20421238
Ruijs MW;Verhoef S;Rookus MA;Pruntel R;van der Hout AH;Hogervorst FB;Kluijt I;Sijmons RH;Aalfs CM;Wagner A;Ausems MG;Hoogerbrugge N;van Asperen CJ;Gomez Garcia EB;Meijers-Heijboer H;Ten Kate LP;Menko FH;van ';	2010	TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes	J Med Genet	20522432
Wilson JR;Bateman AC;Hanson H;An Q;Evans G;Rahman N;Jones JL;Eccles DM;	2010	A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations	J Med Genet	20805372
Kim MK;Cho HS;Bae YK;Lee KH;Ki CS;Lee ST;Hyun MS;	2010	Therapy-related myeloid neoplasm in a patient with TP53 mutation: a dilemma in allogeneic stem cell transplant	Leuk Lymphoma	20443677
Momota H;Narita Y;Miyakita Y;Hosono A;Makimoto A;Shibui S;	2010	Acute lymphoblastic leukemia after temozolomide treatment for anaplastic astrocytoma in a child with a germline TP53 mutation	Pediatr Blood Cancer	20658636
Blanco A;Grana B;Fachal L;Santamarina M;Cameselle-Teijeiro J;Ruiz-Ponte C;Carracedo A;Vega A;	2010	Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN	Clin Genet	19930417
Link DC;Schuettpelz LG;Shen D;Wang J;Walter MJ;Kulkarni S;Payton JE;Ivanovich J;Goodfellow PJ;Le BM;Koboldt DC;Dooling DJ;Fulton RS;Bender RH;Fulton LL;Delehaunty KD;Fronick CC;Appelbaum EL;Schmidt H;Abbott R;O'Laughlin M;Chen K;McLellan MD;Varghese N;Nag	2011	Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML	JAMA	21505135
Sugawara W;Arai Y;Kasai F;Fujiwara Y;Haruta M;Hosaka R;Nishida K;Kurosumi M;Kobayashi Y;Akagi K;Kaneko Y;	2011	Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li-Fraumeni or Li-Fraumeni-like syndrome	Genes Chromosomes Cancer	21484931
Wu CC;Krahe R;Lozano G;Zhang B;Wilson CD;Jo EJ;Amos CI;Shete S;Strong LC;	2011	Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome	Hum Genet	21305319
Ariffin H;	2011	IARC data	Unpublished
Achatz MI;	2011	IARC data	Unpublished
Custodio G;Taques GR;Figueiredo BC;Gugelmin ES;Oliveira Figueiredo MM;Watanabe F;Pontarolo R;Lalli E;Torres LF;	2011	Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil	PLoS One	21445348
Ferrarini A;uteri-Kaczmarek A;Pica A;Boesch N;Heinimann K;Schafer SC;Vesnaver-Megalo S;Cina V;Beckmann JS;Monnerat C;	2011	Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53	Fam Cancer	21225465
Villani A;Tabori U;Schiffman J;Shlien A;Beyene J;Druker H;Novokmet A;Finlay J;Malkin D;	2011	Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study	Lancet Oncol	21601526
Curry S;Ibrahim F;Grehan D;McDermott M;Capra M;Betts D;O'Sullivan M;	2011	Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation	Pediatr Dev Pathol	21054160
Wozniak A;Fryer A;Grimer R;Mc DH;	2011	Multiple malignancies in a child with de novo TP53 mutation	Pediatr Hematol Oncol	21345075
Kato T;Ishikawa K;Satoh M;Kondo S;Kaji M;	2011	Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case	Surg Today	21626334
Lima LO;Lerario AM;Alencar GA;Brito LP;Almeida MQ;Domenice S;Latronico AC;Mendonca BB;Fragoso MC;	2011	Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor	Arq Bras Endocrinol Metabol	21468523
Herrmann LJ;Heinze B;Fassnacht M;Willenberg HS;Quinkler M;Reisch N;Zink M;Allolio B;Hahner S;	2012	TP53 germline mutations in adult patients with adrenocortical carcinoma	J Clin Endocrinol Metab	22170717
Ismael O;Shimada A;Hama A;Elshazley M;Muramatsu H;Goto A;Sakaguchi H;Tanaka M;Takahashi Y;Yinyan X;Fukuda M;Miyajima Y;Yamashita Y;Horibe K;Hanada R;Ito M;Kojima S;	2012	De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics	Br J Haematol	22571758
Melhem-Bertrandt A;Bojadzieva J;Ready KJ;Obeid E;Liu DD;Gutierrez-Barrera AM;Litton JK;Olopade OI;Hortobagyi GN;Strong LC;Arun BK;	2012	Early onset HER2-positive breast cancer is associated with germline TP53 mutations	Cancer	21761402
Osumi T;Miharu M;Fuchimoto Y;Morioka H;Kosaki K;Shimada H;	2012	The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age	Pediatr Blood Cancer	22887876
Rausch T;Jones DT;Zapatka M;Stutz AM;Zichner T;Weischenfeldt J;Jager N;Remke M;Shih D;Northcott PA;Pfaff E;Tica J;Wang Q;Massimi L;Witt H;Bender S;Pleier S;Cin H;Hawkins C;Beck C;von DA;Hans V;Brors B;Eils R;Scheurlen W;Blake J;Benes V;Kulozik AE;Witt O;Martin D;Zhang C;Porat R;Merino DM;Wasserman J;Jabado N;Fontebasso A;Bullinger L;Rucker FG;Dohner K;Dohner H;Koster J;Molenaar JJ;Versteeg R;Kool M;Tabori U;Malkin D;Korshunov A;Taylor MD;Lichter P;Pfister SM;Korbel JO;	2012	Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations	Cell	22265402
Waldmann J;Patsalis N;Fendrich V;Langer P;Saeger W;Chaloupka B;Ramaswamy A;Fassnacht M;Bartsch DK;Slater EP;	2012	Clinical impact of TP53 alterations in adrenocortical carcinomas	Langenbecks Arch Surg	22203015
Choong S;Latiff Z;Mohamed M;Lim L;Chen K;Vengidasan L;Razali H;Abdul RE;Ariffin H;	2012	Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations	Clin Genet	22233476
Piao J;Sakurai N;Iwamoto S;Nishioka J;Nakatani K;Komada Y;Mizutani S;Takagi M;	2012	Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome	Mol Carcinog	22495821
Magnusson S;Gisselsson D;Wiebe T;Kristoffersson U;Borg A;Olsson H;	2012	Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: A population-based survey	Pediatr Blood Cancer	22653678
Pennington KP;Walsh T;Lee M;Pennil C;Novetsky AP;Agnew KJ;Thornton A;Garcia R;Mutch D;King MC;Goodfellow P;Swisher EM;	2012	BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma	Cancer	22811390
Pinto EM;Ribeiro RC;Li J;Taja-Chayeb L;Carrasco LF;de LP;Vidal-Millan S;Maldonado-Mtz H;Duenas-Gonzalez A;McGregor L;Zambetti GP;	2012	An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers	Oncogenesis	23552518
Gomes MC;Kotsopoulos J;de Almeida GL;Costa MM;Vieira R;Filho FA;Pitombo MB;PR FL;Royer R;Zhang P;Narod SA;	2012	The R337H mutation in TP53 and breast cancer in Brazil	Hered Cancer Clin Pract	22455664
McCuaig JM;Armel SR;Novokmet A;Ginsburg OM;Demsky R;Narod SA;Malkin D;	2012	Routine TP53 testing for breast cancer under age 30: ready for prime time?	Fam Cancer	22851211
Kast K;Krause M;Schuler M;Friedrich K;Thamm B;Bier A;Distler W;Kruger S;	2012	Late onset Li-Fraumeni syndrome with bilateral breast cancer and other malignancies: case report and review of the literature	BMC Cancer	22672556
Lee DS;Yoon SY;Looi LM;Kang P;Kang IN;Sivanandan K;Ariffin H;Thong MK;Chin KF;Mohd Taib NA;Yip CH;Teo SH;	2012	Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients	Breast Cancer Res	22507745
Aurtenetxe SO;Calvo B;Fernandez-Teijeiro A;Perez P;Navajas A;	2012	A prospective biological study in relation to a family with Li-Fraumeni syndrome	Clin Transl Oncol	22551548
Schulz E;Valentin A;Ulz P;Beham-Schmid C;Lind K;Rupp V;Lackner H;Wolfler A;Zebisch A;Olipitz W;Geigl J;Berghold A;Speicher MR;Sill H;	2012	Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms	J Med Genet	22652532
Rath MG;Masciari S;Gelman R;Miron A;Miron P;Foley K;Richardson AL;Krop IE;Verselis SJ;Dillon DA;Garber JE;	2013	Prevalence of germline TP53 mutations in HER2+ breast cancer patients	Breast Cancer Res Treat	23580068
Wang PY;Ma W;Park JY;Celi FS;Arena R;Choi JW;Ali QA;Tripodi DJ;Zhuang J;Lago CU;Strong LC;Talagala SL;Balaban RS;Kang JG;Hwang PM;	2013	Increased oxidative metabolism in the Li-Fraumeni syndrome	N Engl J Med	23484829
Mai P;	2013	Direct submission	Unpublished
Serra V;Vivancos A;Puente XS;Felip E;Silberschmidt D;Caratu G;Parra JL;De Mattos-Arruda L;Grueso J;Hernandez-Losa J;Arribas J;Prudkin L;Nuciforo P;Scaltriti M;Seoane J;Baselga J;	2013	Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation	Cancer Discov	23950206
Mitchell G;Ballinger ML;Wong S;Hewitt C;James P;Young MA;Cipponi A;Pang T;Goode DL;Dobrovic A;Thomas DM;	2013	High Frequency of Germline TP53 Mutations in a Prospective Adult-Onset Sarcoma Cohort	PLoS One	23894400
Carraro DM;Koike Folgueira MA;Garcia Lisboa BC;Ribeiro Olivieri EH;Vitorino Krepischi AC;de Carvalho AF;de Carvalho Mota LD;Puga RD;do Socorro MM;Michelli RA;de Lyra EC;Grosso SH;Soares FA;de Souza Waddington Achatz MI;Brentani H;Moreira-Filho CA;Brentani MM;	2013	Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil	PLoS One	23469205
de Bruin MA;Ford JM;Kurian AW;	2013	A young woman with bilateral breast cancer: identifying a genetic cause and implications for management	J Natl Compr Canc Netw	23667202
Giacomazzi J;Selistre S;Duarte J;Ribeiro JP;Vieira PJ;de Souza MG;Rossi C;Czepielewski M;Netto CB;Hainaut P;shton-Prolla P;	2013	TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient	BMC Cancer	23570263
Heitzer E;Lax S;Lafer I;Muller SM;Pristauz G;Ulz P;Jahn S;Hogenauer C;Petru E;Speicher MR;Geigl JB;	2013	Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma	BMC Med Genet	24373500
Pinto EM;Morton C;Rodriguez-Galindo C;McGregor L;Davidoff AM;Mercer K;Debelenko LV;Billups C;Ribeiro RC;Zambetti GP;	2013	Establishment and characterization of the first pediatric adrenocortical carcinoma xenograft model identifies topotecan as a potential chemotherapeutic agent	Clin Cancer Res	23406775
Cho Y;Kim J;Kim Y;Jeong J;Lee KA;	2013	A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer	Ann Lab Med	23667851
Zerdoumi Y;ury-Landas J;Bonaiti-Pellie C;Derambure C;Sesboue R;Renaux-Petel M;Frebourg T;Bougeard G;Flaman JM;	2013	Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients	Hum Mutat	23172776
Yoshimura J;Natsumeda M;Nishihira Y;Nishiyama K;Saito A;Okamoto K;Takahashi H;Fujii Y;	2013	[Radiation-induced Intracranial Osteosarcoma after Radiation for Acute Lymphocytic Leukemia Associated with Li-Fraumeni Syndrome]	No Shinkei Geka	23732761
Sakurai N;Iwamoto S;Miura Y;Nakamura T;Matsumine A;Nishioka J;Nakatani K;Komada Y;	2013	Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma	Pediatr Int	23409989
Chang VY;Federman N;Martinez-Agosto J;Tatishchev SF;Nelson SF;	2013	Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome	Pediatr Blood Cancer	23015295
Powell BC;Jiang L;Muzny DM;Trevino LR;Dreyer ZE;Strong LC;Wheeler DA;Gibbs RA;Plon SE;	2013	Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing	Pediatr Blood Cancer	23255406
Bell K;Hodgson N;Levine M;Sadikovic B;Zbuk K;	2014	Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer	Breast Cancer Res Treat	24916180
Hettmer S;Archer NM;Somers GR;Novokmet A;Wagers AJ;Diller L;Rodriguez-Galindo C;Teot LA;Malkin D;	2014	Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers	Cancer	24382691
Castera L;Krieger S;Rousselin A;Legros A;Baumann JJ;Bruet O;Brault B;Fouillet R;Goardon N;Letac O;Baert-Desurmont S;Tinat J;Bera O;Dugast C;Berthet P;Polycarpe F;Layet V;Hardouin A;Frebourg T;Vaur D;	2014	Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes	Eur J Hum Genet	24549055
Courtney R;Ranganathan S;	2014	Simultaneous Adrenocortical Carcinoma and Neuroblastoma in an Infant With a Novel Germline p53 Mutation	J Pediatr Hematol Oncol	25374282
Michalarea V;Calcasola M;Cane P;Tobal K;Izatt L;Spicer J;	2014	EGFR-mutated lung cancer in Li-Fraumeni syndrome	Lung Cancer	25047674
Fostira F;Konstantopoulou I;Mavroudis D;Tryfonopoulos D;Yannoukakos D;Voutsinas GE;	2014	Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases	Clin Genet	24702488
Etzold A;Schroder JC;Bartsch O;Zechner U;Galetzka D;	2014	Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome	Fam Cancer	25226867
Grant RC;Selander I;Connor AA;Selvarajah S;Borgida A;Briollais L;Petersen GM;Lerner-Ellis J;Holter S;Gallinger S;	2014	Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer	Gastroenterology	25479140
Kanchi KL;Johnson KJ;Lu C;McLellan MD;Leiserson MD;Wendl MC;Zhang Q;Koboldt DC;Xie M;Kandoth C;McMichael JF;Wyczalkowski MA;Larson DE;Schmidt HK;Miller CA;Fulton RS;Spellman PT;Mardis ER;Druley TE;Graubert TA;Goodfellow PJ;Raphael BJ;Wilson RK;Ding L;	2014	Integrated analysis of germline and somatic variants in ovarian cancer	Nat Commun	24448499
Behjati S;Maschietto M;Williams RD;Side L;Hubank M;West R;Pearson K;Sebire N;Tarpey P;Futreal A;Brooks T;Stratton MR;Anderson J;	2014	A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing	PLoS One	24810334
Cury NM;Ferraz VE;Silva WA;	2014	TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families	Hered Cancer Clin Pract	24625245
Jia Y;Ali SM;Saad S;Chan CA;Miller VA;Halmos B;	2014	Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib	Cancer Biol Ther	24835218
Oh CS;Lee JH;Jung ST;Na BR;	2014	Osteosarcoma with Adenocarcinoma of Lung in Li-Fraumeni Syndrome: A Case Report	J Korean Bone Joint Tumor Soc
Wong P;Han K;	2014	Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy	Curr Oncol	24764719
Kool M;Jones DT;Jager N;Northcott PA;Pugh TJ;Hovestadt V;Piro RM;Esparza LA;Markant SL;Remke M;Milde T;Bourdeaut F;Ryzhova M;Sturm D;Pfaff E;Stark S;Hutter S;Seker-Cin H;Johann P;Bender S;Schmidt C;Rausch T;Shih D;Reimand J;Sieber L;Wittmann A;Linke L;Wit	2014	Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition	Cancer Cell	24651015
Lechien JR;Brotchi J;Van ML;Costa de AP;Bruninx G;Hilbert P;Nubourgh Y;	2014	Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers	Neurochirurgie	24636404
Wang Z;Sun Y;Gao B;Lu Y;Fang R;Gao Y;Xiao T;Liu XY;Pao W;Zhao Y;Chen H;Ji H;	2014	Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome	Cancer Lett	23981578
Churpek JE;Walsh T;Zheng Y;Moton Z;Thornton AM;Lee MK;Casadei S;Watts A;Neistadt B;Churpek MM;Huo D;Zvosec C;Liu F;Niu Q;Marquez R;Zhang J;Fackenthal J;King MC;Olopade OI;	2015	Inherited predisposition to breast cancer among African American women	Breast Cancer Res Treat	25428789
Tung N;Battelli C;Allen B;Kaldate R;Bhatnagar S;Bowles K;Timms K;Garber JE;Herold C;Ellisen L;Krejdovsky J;DeLeonardis K;Sedgwick K;Soltis K;Roa B;Wenstrup RJ;Hartman AR;	2015	Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel	Cancer	25186627
Mirabello L;Yeager M;Mai PL;Gastier-Foster JM;Gorlick R;Khanna C;Patino-Garcia A;Sierrasesumaga L;Lecanda F;Andrulis IL;Wunder JS;Gokgoz N;Barkauskas DA;Zhang X;Vogt A;Jones K;Boland JF;Chanock SJ;Savage SA;	2015	Germline TP53 variants and susceptibility to osteosarcoma	J Natl Cancer Inst	25896519
Zhang J;Walsh MF;Wu G;Edmonson MN;Gruber TA;Easton J;Hedges D;Ma X;Zhou X;Yergeau DA;Wilkinson MR;Vadodaria B;Chen X;McGee RB;Hines-Dowell S;Nuccio R;Quinn E;Shurtleff SA;Rusch M;Patel A;Becksfort JB;Wang S;Weaver MS;Ding L;Mardis ER;Wilson RK;Gajjar A;El	2015	Germline Mutations in Predisposition Genes in Pediatric Cancer	N Engl J Med	26580448
Wasserman JD;Novokmet A;Eichler-Jonsson C;Ribeiro RC;Rodriguez-Galindo C;Zambetti GP;Malkin D;	2015	Prevalence and Functional Consequence of TP53 Mutations in Pediatric Adrenocortical Carcinoma: A Children's Oncology Group Study	J Clin Oncol	25584008
Yurgelun MB;Masciari S;Joshi VA;Mercado RC;Lindor NM;Gallinger S;Hopper JL;Jenkins MA;Buchanan DD;Newcomb PA;Potter JD;Haile RW;Kucherlapati R;Syngal S;	2015	Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry	JAMA Oncol	26086041
Ribi S;Baumhoer D;Lee K;Edison;Teo AS;Madan B;Zhang K;Kohlmann WK;Yao F;Lee WH;Hoi Q;Cai S;Woo XY;Tan P;Jundt G;Smida J;Nathrath M;Sung WK;Schiffman JD;Virshup DM;Hillmer AM;	2015	TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome	Oncotarget	25762628
Yang X;Wu J;Lu J;Liu G;Di G;Chen C;Hou Y;Sun M;Yang W;Xu X;Zhao Y;Hu X;Li D;Cao Z;Zhou X;Huang X;Liu Z;Chen H;Gu Y;Chi Y;Yan X;Han Q;Shen Z;Shao Z;Hu Z;	2015	Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing	PLoS One	25927356
Arcand SL;Akbari MR;Mes-Masson AM;Provencher D;Foulkes WD;Narod SA;Tonin PN;	2015	Germline TP53 mutational spectrum in French Canadians with breast cancer	BMC Med Genet	25925845
Schiavi A;Lavigne J;Turcotte R;Kasprzak L;Dumas N;Chong G;Freeman C;Alameldin M;Galiatsatos P;Palma L;Foulkes WD;	2015	Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma	Curr Oncol	26628864
Couch FJ;Hart SN;Sharma P;Toland AE;Wang X;Miron P;Olson JE;Godwin AK;Pankratz VS;Olswold C;Slettedahl S;Hallberg E;Guidugli L;Davila JI;Beckmann MW;Janni W;Rack B;Ekici AB;Slamon DJ;Konstantopoulou I;Fostira F;Vratimos A;Fountzilas G;Pelttari LM;Tapper W	2015	Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer	J Clin Oncol	25452441
Patrier-Sallebert S;Bougeard G;Baert-Desurmont S;Lamy A;Flaman JM;Mansuy L;Bronner M;Lasset C;Brugieres L;Golfier F;Frebourg T;	2015	Transmission of germline TP53 mutations from male carriers to female partners	J Med Genet	25612911
Schlegelberger B;Kreipe H;Lehmann U;Steinemann D;Ripperger T;Gohring G;Thomay K;Rump A;Di DN;Suttorp M;	2015	A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies	Pediatr Blood Cancer	25787918
Chak BP;Chan ES;Tong JH;Leung AW;Cheng FW;Lam GK;Shing MM;Li CK;To KF;	2015	Germline TP53 mutations is common in patients with two early-onset primary malignancies	Clin Genet	25293557
Ricordel C;Labalette-Tiercin M;Lespagnol A;Kerjouan M;Dugast C;Mosser J;Desrues B;Lena H;	2015	EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature	Lung Cancer	25433984
Jhaveri AP;Bale A;Lovick N;Zuckerman K;Deshpande H;Rath K;Schwartz P;Hofstatter EW;	2015	The benefit and burden of cancer screening in Li-Fraumeni syndrome: a case report	Yale J Biol Med	26029016
Kappel S;Janschek E;Wolf B;Rudas M;Teleky B;Jakesz R;Kandioler D;	2015	TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family	Breast Cancer Res Treat	25981898
Keel SB;Scott A;Sanchez-Bonilla M;Ho PA;Gulsuner S;Pritchard CC;Abkowitz JL;King MC;Walsh T;Shimamura A;	2016	Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients	Haematologica	27418648
Fujisawa Y;Sakaguchi K;Ono H;Yamaguchi R;Kato F;Kagami M;Fukami M;Ogata T;	2016	Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma	J Steroid Biochem Mol Biol	26940356
Parsons DW;Roy A;Yang Y;Wang T;Scollon S;Bergstrom K;Kerstein RA;Gutierrez S;Petersen AK;Bavle A;Lin FY;Lopez-Terrada DH;Monzon FA;Hicks MJ;Eldin KW;Quintanilla NM;Adesina AM;Mohila CA;Whitehead W;Jea A;Vasudevan SA;Nuchtern JG;Ramamurthy U;McGuire AL;Hil	2016	Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors	JAMA Oncol	26822237
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Hu H;Liu J;Liao X;Zhang S;Li H;Lu R;Li X;Lin W;Liu M;Xia Z;Qing G;Li JD;	2016	Genetic and functional analysis of a Li Fraumeni syndrome family in China	Sci Rep	26818906
Lin PH;Kuo WH;Huang AC;Lu YS;Lin CH;Kuo SH;Wang MY;Liu CY;Cheng FT;Yeh MH;Li HY;Yang YH;Hsu YH;Fan SC;Li LY;Yu SL;Chang KJ;Chen PL;Ni YH;Huang CS;	2016	Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer	Oncotarget	26824983
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Kwong A;Shin VY;Au CH;Law FB;Ho DN;Ip BK;Wong AT;Lau SS;To RM;Choy G;Ford JM;Ma ES;Chan TL;	2016	Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel	J Mol Diagn	27157322
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Thompson ER;Rowley SM;Li N;McInerny S;Devereux L;Wong-Brown MW;Trainer AH;Mitchell G;Scott RJ;James PA;Campbell IG;	2016	Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care	J Clin Oncol	26786923
Li X;Kang J;Pan Q;Sikora-Wohlfeld W;Zhao D;Meng C;Bai C;Patwardhan A;Chen R;Ren H;Butte AJ;Ding K;	2016	Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome	Oncol Rep	26707089
Park KJ;Choi HJ;Suh SP;Ki CS;Kim JW;	2016	Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome	Ann Lab Med	27374712
Li J;Meeks H;Feng BJ;Healey S;Thorne H;Makunin I;Ellis J;Campbell I;Southey M;Mitchell G;Clouston D;Kirk J;Goldgar D;Chenevix-Trench G;	2016	Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families	J Med Genet	26534844
Zebisch A;Lal R;Muller M;Lind K;Kashofer K;Girschikofsky M;Fuchs D;Wolfler A;Geigl JB;Sill H;	2016	Acute myeloid leukemia with TP53 germ line mutations	Blood	27621308
Buzby JS;Williams SA;Schaffer L;Head SR;Nugent DJ;	2017	Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome	Cancer Genet	28279309
Lolas HS;Renbaum P;Kamal L;Dweik D;Salahat M;Jaraysa T;Abu RA;Casadei S;Mandell JB;Gulsuner S;Lee MK;Walsh T;King MC;Levy-Lahad E;Kanaan M;	2017	Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP531	Int J Cancer	28486781
Rummel SK;Lovejoy L;Shriver CD;Ellsworth RE;	2017	Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer	Breast Cancer Res Treat	28503720
Yang XR;Devi BCR;Sung H;Guida J;Mucaki EJ;Xiao Y;Best A;Garland L;Xie Y;Hu N;Rodriguez-Herrera M;Wang C;Jones K;Luo W;Hicks B;Tang TS;Moitra K;Rogan PK;Dean M;	2017	Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia	Breast Cancer Res Treat	28664506
Andrade RC;de Lima MAFD;de Faria PAS;Vargas FR;	2017	TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma	Fam Cancer	28477317
Hayes J;Yu Y;Jalbert LE;Mazor T;Jones LE;Wood MD;Walsh KM;Bengtsson H;Hong C;Oberndorfer S;Roetzer T;Smirnov IV;Clarke JL;Aghi MK;Chang SM;Nelson SJ;Woehrer A;Phillips JJ;Solomon DA;Costello JF;	2017	Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas	Neuro Oncol	29077933
O'Shea R;Clarke R;Berkley E;Giffney C;Farrell M;O'Donovan E;Gallagher DJ;	2017	Next generation sequencing is informing phenotype: a TP53 example	Fam Cancer	28509937
Slavin T;Neuhausen SL;Rybak C;Solomon I;Nehoray B;Blazer K;Niell-Swiller M;Adamson AW;Yuan YC;Yang K;Sand S;Castillo D;Herzog J;Wu X;Tao S;Chavez T;Woo Y;Chao J;Mora P;Horcasitas D;Weitzel J;	2017	Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network	Cancer Genet	29025585
Trubicka J;Filipek I;Piotr I;Rydzanicz M;Grajkowska W;Piekutowska-Abramczuk D;Chrzanowska K;Karkucinska-Wieckowska A;Iwanicka-Pronicka K;Pronicki M;Lastowska M;Ploski R;Dembowska-Baginska B;	2017	Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma	Cancer Genet	29025599
Sabater-Marco V;Ferrando-Roca F;Morera-Faet A;Garcia-Garcia JA;Bosch SB;Lopez-Guerrero JA;	2017	Primary Cutaneous Leiomyosarcoma Arising in a Patient With Li-Fraumeni Syndrome. A Neoplasm With Unusual Histopathologic Features and Loss of Heterozygosity at TP53 Gene	Am J Dermatopathol	28475508
Renaux-Petel M;Charbonnier F;Thery JC;Fermey P;Lienard G;Bou J;Coutant S;Vezain M;Kasper E;Fourneaux S;Manase S;Blanluet M;Leheup B;Mansuy L;Champigneulle J;Chappe C;Longy M;Sevenet N;Paillerets BB;Guerrini-Rousseau L;Brugieres L;Caron O;Sabourin JC;Tourn	2017	Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome	J Med Genet	29070607
Kuhlen M;Taeubner J;Wieczorek D;Borkhardt A;	2017	Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?	Mol Cell Pediatr	28983852
Chan SH;Lim WK;Ishak NDB;Li ST;Goh WL;Tan GS;Lim KH;Teo M;Young CNC;Malik S;Tan MH;Teh JYH;Chin FKC;Kesavan S;Selvarajan S;Tan P;Teh BT;Soo KC;Farid M;Quek R;Ngeow J;	2017	Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas	Sci Rep	28878254
Schuler N;Palm J;Schmitz S;Lorat Y;Rube CE;	2017	Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome	Clin Transl Radiat Oncol	29594232
Cornelius A;Foley J;Bond J;Nagulapally AB;Steinbrecher J;Hendricks WPD;Rich M;Yendrembam S;Bergendahl G;Trent JM;Sholler GS;	2017	Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma	Front Pharmacol	28993730
Nandikolla AG;Venugopal S;Anampa J;	2017	Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature	Breast Cancer (Dove Med Press)	28356770
Jalkh N;Chouery E;Haidar Z;Khater C;Atallah D;Ali H;Marafie MJ;Al-Mulla MR;Al-Mulla F;Megarbane A;	2017	Next-generation sequencing in familial breast cancer patients from Lebanon	BMC Med Genomics	28202063
Sung PL;Wen KC;Chen YJ;Chao TC;Tsai YF;Tseng LM;Qiu JT;Chao KC;Wu HH;Chuang CM;Wang PH;Huang CF;	2017	The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels	PLoS One	28961279
Andrade RC;Dos Santos AC;de Aguirre Neto JC;Nevado J;Lapunzina P;Vargas FR;	2017	TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes	Fam Cancer	27714481
Llovet P;Illana FJ;Martin-Morales L;de la Hoya M;Garre P;Ibanez-Royo MD;Perez-Segura P;Caldes T;Garcia-Barberan V;	2017	A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families	Fam Cancer	28573494
Saya S;Killick E;Thomas S;Taylor N;Bancroft EK;Rothwell J;Benafif S;Dias A;Mikropoulos C;Pope J;Chamberlain A;Gunapala R;Izatt L;Side L;Walker L;Tomkins S;Cook J;Barwell J;Wiles V;Limb L;Eccles D;Leach MO;Shanley S;Gilbert FJ;Hanson H;Gallagher D;Rajashan	2017	Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls	Fam Cancer	28091804
Zick A;Kadouri L;Cohen S;Frohlinger M;Hamburger T;Zvi N;Plaser M;Avital E;Breuier S;Elian F;Salah A;Goldberg Y;Peretz T;	2017	Recurrent TP53 missense mutation in cancer patients of Arab descent	Fam Cancer	27866339
Xie Y;Zhao WH;Hua Y;Sun Q;Wu PH;	2017	[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review]	Zhongguo Dang Dai Er Ke Za Zhi	29237527
Sherborne AL;Lavergne V;Yu K;Lee L;Davidson PR;Mazor T;Smirnoff IV;Horvai AE;Loh M;Dubois SG;Goldsby RE;Neglia JP;Hammond S;Robison LL;Wustrack R;Costello JF;Nakamura AO;Shannon KM;Bhatia S;Nakamura JL;	2017	Somatic and Germline TP53 Alterations in Second Malignant Neoplasms from Pediatric Cancer Survivors	Clin Cancer Res	27683180
Sun J;Meng H;Yao L;Lv M;Bai J;Zhang J;Wang L;Ouyang T;Li J;Wang T;Fan Z;Fan T;Lin B;Xie Y;	2017	Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients	Clin Cancer Res	28724667
Zerdoumi Y;Lanos R;Raad S;Flaman JM;Bougeard G;Frebourg T;Tournier I;	2017	Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage	Hum Mol Genet	28472496
Sinclair TJ;Thorson CM;Alvarez E;Tan S;Spunt SL;Chao SD;	2017	Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome	Pediatr Surg Int	28160093
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Tandon B;Hagemann IS;Maluf HM;Pfeifer JD;Al-Kateb H;	2017	Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix	Int J Gynecol Pathol	28177947
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Klein JD;Kupferman ME;	2017	Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations	Head Neck	27726232
Yoshida T;Tajika M;Tanaka T;Ishihara M;Hirayama Y;Mizuno N;Hara K;Hijioka S;Imaoka H;Hieda N;Okuno N;Kinoshita T;Bhatia V;Shimizu Y;Yatabe Y;Yamao K;Niwa Y;	2017	The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome	Intern Med	28154273
Krzesniak M;Butkiewicz D;Rachtan J;Matuszczyk I;Grzybowska E;Rusin M;	2017	A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers	Adv Med Sci	28499267
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Huang KL;Mashl RJ;Wu Y;Ritter DI;Wang J;Oh C;Paczkowska M;Reynolds S;Wyczalkowski MA;Oak N;Scott AD;Krassowski M;Cherniack AD;Houlahan KE;Jayasinghe R;Wang LB;Zhou DC;Liu D;Cao S;Kim YW;Koire A;McMichael JF;Hucthagowder V;Kim TB;Hahn A;Wang C;McLellan MD;	2018	Pathogenic Germline Variants in 10,389 Adult Cancers1	Cell	29625052
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Diets IJ;Waanders E;Ligtenberg MJ;van Bladel DAG;Kamping EJ;Hoogerbrugge PM;Hopman S;Olderode-Berends MJ;Gerkes EH;Koolen DA;Marcelis C;Santen GW;van Belzen MJ;Mordaunt D;McGregor L;Thompson E;Kattamis A;Pastorczak A;Mlynarski W;Ilencikova D;van Silfhout	2018	High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer	Clin Cancer Res	29351919
Hu C;Hart SN;Polley EC;Gnanaolivu R;Shimelis H;Lee KY;Lilyquist J;Na J;Moore R;Antwi SO;Bamlet WR;Chaffee KG;DiCarlo J;Wu Z;Samara R;Kasi PM;McWilliams RR;Petersen GM;Couch FJ;	2018	Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer	JAMA	29922827
Singh J;Thota N;Singh S;Padhi S;Mohan P;Deshwal S;Sur S;Ghosh M;Agarwal A;Sarin R;Ahmed R;Almel S;Chakraborti B;Raina V;DadiReddy PK;Smruti BK;Rajappa S;Dodagoudar C;Aggarwal S;Singhal M;Joshi A;Kumar R;Kumar A;Mishra DK;Arora N;Karaba A;Sankaran S;Katrag	2018	Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations	Breast Cancer Res Treat	29470806
Brehin AC;Patrier-Sallebert S;Bougeard G;Side-Pfennig G;Llamas GF;Lamy A;Colasse E;Kandel-Aznar C;Delnatte C;Vuillemin E;Sadot-Lebouvier S;Odent S;Sabourin JC;Golfier F;Frebourg T;	2018	Gestational choriocarcinoma associated with a germline TP53 mutation	Fam Cancer	28477316
Waszak SM;Northcott PA;Buchhalter I;Robinson GW;Sutter C;Groebner S;Grund KB;Brugieres L;Jones DTW;Pajtler KW;Morrissy AS;Kool M;Sturm D;Chavez L;Ernst A;Brabetz S;Hain M;Zichner T;Segura-Wang M;Weischenfeldt J;Rausch T;Mardin BR;Zhou X;Baciu C;Lawerenz C	2018	Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort	Lancet Oncol	29753700
Castillo-Guardiola V;Sarabia-Meseguer MD;Marin-Vera M;Sanchez-Bermudez AI;Alonso-Romero JL;Noguera-Velasco JA;Ruiz-Espejo F;	2018	New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer	Cancer Genet	30553462
Cipriano NM;de Brito AM;de Oliveira ES;de Faria FC;Lemos S;Rodrigues AN;de Oliveira LD;Dos Santos LL;	2018	Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil	Breast Cancer	30535581
Hatta N;Hatta Y;	2018	Germ line TP53 mutation in a patient with multiple Bowen's disease	J Dermatol	30592087
Gatineau-Sailliant S;Turcotte K;Quintal MC;Turpin S;Champagne J;Petrella T;Roussy M;Cellot S;Bouron-Dal SD;	2018	Gray Zone Lymphoma Arising in the Neck of a Teenager With a Germline Mutation in TP53	J Pediatr Hematol Oncol	30299350
Tang YJ;Yu TT;Ma J;Zhou Y;Xu M;Gao YJ;	2018	Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation: A Case Report and Literature Review	J Pediatr Hematol Oncol	29746440
Drazer MW;Kadri S;Sukhanova M;Patil SA;West AH;Feurstein S;Calderon DA;Jones MF;Weipert CM;Daugherty CK;Ceballos-Lopez AA;Raca G;Lingen MW;Li Z;Segal JP;Churpek JE;Godley LA;	2018	Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies	Blood Adv	29365323
AlHarbi M;Mubarak N;AlMubarak L;Aljelaify R;AlSaeed M;Almutairi A;AlJabarat W;Alqubaishi F;Al-Subaie L;AlTassan N;Neben CL;Zhou AY;Abedalthagafi M;	2018	Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family	NPJ Genom Med	30588330
Chan SH;Chew W;Ishak NDB;Lim WK;Li ST;Tan SH;Teo JX;Shaw T;Chang K;Chen Y;Iyer P;Tan EEK;Seng MS;Chan MY;Tan AM;Low SYY;Soh SY;Loh AHP;Ngeow J;	2018	Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours	NPJ Genom Med	30455982
Cotter JA;Szymanski L;Karimov C;Boghossian L;Margol A;Dhall G;Tamrazi B;Varaprasathan GI;Parham DM;Judkins AR;Biegel JA;	2018	Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner1	Cold Spring Harb Mol Case Stud	29581140
Hauke J;Horvath J;Gross E;Gehrig A;Honisch E;Hackmann K;Schmidt G;Arnold N;Faust U;Sutter C;Hentschel J;Wang-Gohrke S;Smogavec M;Weber BHF;Weber-Lassalle N;Weber-Lassalle K;Borde J;Ernst C;Altmuller J;Volk AE;Thiele H;Hubbel V;Nurnberg P;Keupp K;Versmold	2018	Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer1	Cancer Med	29522266
Ji M;Wang L;Shao Y;Cao W;Xu T;Chen S;Wang Z;He Q;Yang K;	2018	A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome1	Am J Cancer Res	29416929
Hajkova N;Hojny J;Nemejcova K;Dundr P;Ulrych J;Jirsova K;Glezgova J;Ticha I;	2018	Germline mutation in the TP53 gene in uveal melanoma	Sci Rep	29769598
Haque MM;Kowtal P;Sarin R;	2018	Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts	Sci Rep	30076369
Blombery P;Thompson E;Ryland GL;Joyce R;Byrne DJ;Khoo C;Lade S;Hertzberg M;Hapgood G;Marlton P;Deva A;Lindeman G;Fox S;Westerman D;Prince M;	2018	Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma	Oncotarget	30546832
Chan GHJ;Ong PY;Low JJH;Kong HL;Ow SGW;Tan DSP;Lim YW;Lim SE;Lee SC;	2018	Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers	Oncotarget	30093976
Kanke Y;Shimomura A;Saito M;Honda T;Shiraishi K;Shimada Y;Watanabe R;Yoshida H;Yoshida M;Shimizu C;Takahashi K;Totsuka H;Ogiwara H;Hirose S;Kono K;Tamura K;Okamoto A;Kinoshita T;Kato T;Kohno T;	2018	Gene aberration profile of tumors of adolescent and young adult females	Oncotarget	29464067
Kumar P;Gill RM;Phelps A;Tulpule A;Matthay K;Nicolaides T;	2018	Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives	Cureus	29946497
Pathak S;Singh SRK;Katiyar V;Mcdunn S;	2018	Epidermal Growth Factor Receptor-mutated Lung Cancer as the Initial Manifestation of Germline TP53 Mutation Associated Cancer	Cureus	29854570
Stjepanovic N;Stockley TL;Bedard PL;McCuaig JM;Aronson M;Holter S;Semotiuk K;Leighl NB;Jang R;Krzyzanowska MK;Oza AM;Gupta A;Elser C;Ahmed L;Wang L;Kamel-Reid S;Siu LL;Kim RH;	2018	Additional germline findings from a tumor profiling program	BMC Med Genomics	30092803
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Martin-Morales L;Rofes P;Diaz-Rubio E;Llovet P;Lorca V;Bando I;Perez-Segura P;de la Hoya M;Garre P;Garcia-Barberan V;Caldes T;	2018	Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition	PLoS One	30256826
Stoltze U;Skytte AB;Roed H;Hasle H;Ejlertsen B;Overeem Hansen TV;Schmiegelow K;Gerdes AM;Wadt K;	2018	Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark	PLoS One	29324801
Paulo P;Maia S;Pinto C;Pinto P;Monteiro A;Peixoto A;Teixeira MR;	2018	Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer	PLoS Genet	29659569
Macaulay S;Goodyear QC;Kruger M;Chen W;Essop F;Krause A;	2018	The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome	Fam Cancer	29392648
Park JS;Lee ST;Nam EJ;Han JW;Lee JY;Kim J;Kim TI;Park HS;	2018	Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer	BMC Cancer	29338689
Wang YA;Jian JW;Hung CF;Peng HP;Yang CF;Cheng HS;Yang AS;	2018	Germline breast cancer susceptibility gene mutations and breast cancer outcomes	BMC Cancer	29566657
Doyle MR;Johnston JM;	2018	A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome	Pediatr Hematol Oncol	30239254
Weber-Lassalle K;Harter P;Hauke J;Ernst C;Kommoss S;Marme F;Weber-Lassalle N;Prieske K;Dietrich D;Borde J;Pohl-Rescigno E;Reuss A;Ataseven B;Engel C;Stingl JC;Schmutzler RK;Hahnen E;	2018	Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial	Hum Mutat	30216591
Yamazaki F;Shima H;Osumi T;Narumi S;Kuroda T;Shimada H;	2018	Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation	J Pediatr Hematol Oncol	28902083
Pahl L;Beier R;von NN;Auber B;Hofs M;Prott EC;Schlegelberger B;Reinhardt D;Steinemann D;	2018	Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome	Pediatr Blood Cancer	29893455
Meiss AE;Thomas M;Modesitt SC;Ring KL;Atkins KA;Mills AM;	2018	Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population	Hum Pathol	29958926
Toki T;Yoshida K;Wang R;Nakamura S;Maekawa T;Goi K;Katoh MC;Mizuno S;Sugiyama F;Kanezaki R;Uechi T;Nakajima Y;Sato Y;Okuno Y;Sato-Otsubo A;Shiozawa Y;Kataoka K;Shiraishi Y;Sanada M;Chiba K;Tanaka H;Terui K;Sato T;Kamio T;Sakaguchi H;Ohga S;Kuramitsu M;Ham	2018	De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome	Am J Hum Genet	30146126
Donner I;Katainen R;Sipila LJ;Aavikko M;Pukkala E;Aaltonen LA;	2018	Germline mutations in young non-smoking women with lung adenocarcinoma	Lung Cancer	30032850
Carter NJ;Marshall ML;Susswein LR;Zorn KK;Hiraki S;Arvai KJ;Torene RI;McGill AK;Yackowski L;Murphy PD;Xu Z;Solomon BD;Klein RT;Hruska KS;	2018	Germline pathogenic variants identified in women with ovarian tumors	Gynecol Oncol	30322717
Ferreira AM;Brondani VB;Helena VP;Charchar HLS;Zerbini MCN;Leite LAS;Hoff AO;Latronico AC;Mendonca BB;Diz MDPE;de Almeida MQ;Fragoso MCBV;	2019	Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation1	J Steroid Biochem Mol Biol	30974190
Li JY;Jing R;Wei H;Wang M;Xiaowei Q;Liu H;Jian L;Ou JH;Jiang WH;Tian FG;Sheng Y;Li HY;Xu H;Zhang RS;Guan AH;Liu K;Jiang HC;Ren Y;He JJ;Huang W;Liao N;Cai X;Ming J;Ling R;Xu Y;Hu CY;Zhang J;Guo B;Ouyang L;Shuai P;Liu Z;Zhong L;Zeng Z;Zhang T;Xuan Z;Tan X;L	2019	Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer	Int J Cancer	29752822
Nunziato M;Esposito MV;Starnone F;Diroma MA;Calabrese A;Del M;Buono P;Frasci G;Botti G;D'Aiuto M;Salvatore F;D'Argenio V;	2019	A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study	Anal Chim Acta	30482293
Quinn EA;Maciaszek JL;Pinto EM;Phillips AH;Berdy D;Khandwala M;Upadhyaya SA;Zambetti GP;Kriwacki RW;Ellison DW;Nichols KE;Kesserwan C;	2019	From uncertainty to pathogenicity: Clinical and functional interrogation of a rare TP53 in-frame deletion	Cold Spring Harb Mol Case Stud	30886117
Aceto GM;Awadelkarim KD;Di NM;Moscatello C;Pantalone MR;Verginelli F;Elwali NE;Mariani-Costantini R;	2019	Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors	Breast Cancer Res Treat	30796655
Abe T;Blackford AL;Tamura K;Ford M;McCormick P;Chuidian M;Almario JA;Borges M;Lennon AM;Shin EJ;Klein AP;Hruban RH;Canto MI;Goggins M;	2019	Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance	J Clin Oncol	30883245
Tan GIL;Merchant K;Tan EEK;Low DCY;Ng LP;Seow WT;Low SYY;	2019	A germline variant of TP53 in paediatric diffuse leptomeningeal glioneuronal tumour	Childs Nerv Syst	30937530
Ow SGW;Ong PY;Lee SC;	2019	Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world	PLoS One	30875412
Henn J;Spier I;Adam RS;Holzapfel S;Uhlhaas S;Kayser K;Plotz G;Peters S;Aretz S;	2019	Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes	Hered Cancer Clin Pract	30680046
Bakhuizen JJ;Hogervorst FB;Velthuizen ME;Ruijs MW;van EK;van Os TA;Gille JJ;Collee M;van den Ouweland AM;van Asperen CJ;Kets CM;Mensenkamp AR;Leter EM;Blok MJ;de Jong MM;Ausems MG;	2019	TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort	Fam Cancer	30607672
Brown NJ;Bhatia K;Teague J;White SM;Lo P;Challis J;Beshay V;Sullivan M;Malkin D;Hansford JR;	2019	Report of a bi-allelic truncating germline mutation in TP53	Fam Cancer	29737433
Gallardo-Alvarado LN;Tusie-Luna MT;Tussie-Luna MI;Diaz-Chavez J;Segura YX;Bargallo-Rocha E;Villarreal C;Herrera-Montalvo LA;Herrera-Medina EM;Cantu-de Leon DF;	2019	Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population	BMC Cancer	30709381
Yurgelun MB;Chittenden AB;Morales-Oyarvide V;Rubinson DA;Dunne RF;Kozak MM;Qian ZR;Welch MW;Brais LK;Da SA;Bui JL;Yuan C;Li T;Li W;Masuda A;Gu M;Bullock AJ;Chang DT;Clancy TE;Linehan DC;Findeis-Hosey JJ;Doyle LA;Thorner AR;Ducar MD;Wollison BM;Khalaf N;Pe	2019	Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer	Genet Med	29961768
Petridis C;Arora I;Shah V;Megalios A;Moss C;Mera A;Clifford A;Gillett C;Pinder SE;Tomlinson I;Roylance R;Simpson MA;Sawyer EJ;	2019	Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years	Breast Cancer Res	31060593
Baek YS;Seo JY;Song JY;Lee SY;Kim A;Jeon J;	2019	Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature	J Eur Acad Dermatol Venereol	30653764

Topography

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Morphology

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cDNA Descriptions

i.e.: c.524G>A or 524G>A

Reference Sequence: NM_000546.5

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Protein Descriptions

i.e.: p.R175H or R175H

Reference Sequence: UniProt P04637

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Genomic Descriptions (hg19)

i.e.: g.7578406C>T or 7578406C>T

Reference Sequence: GenBank NC_000017.10

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Genomic Descriptions (hg38)

i.e.: g.7675088C>T or 7675088C>T

Reference Sequence: GenBank NC_000017.11

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Description

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Struct-Function Motif

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Exon/Intron

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Transactivation Class

functional

non-functional

partially functional

supertrans

SIFT Class

Damaging

Tolerated

Chromosome Positioning

hg19

hg38

Mutant Base (coding)

Codon Number

Enter by Range

Codon No.

Start (≤)

(≤) End

Wild-Type Codon

Mutant Codon

Wild-Type Amino Acid

Mutant Amino Acid

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p53 Coding Sequence

Genetic Code

Confirmed or Obligate Carriers Only

Cancer-Affected Individuals Only

Age at Diagnosis

Start

End

Sex

Female

Male

Family History

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Reference

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Author	Year	Title	Journal	PubMed	Abstract
Churpek JE;Marquez R;Neistadt B;Claussen K;Lee MK;Churpek MM;Huo D;Weiner H;Bannerjee M;Godley LA;Le Beau MM;Pritchard CC;Walsh T;King MC;Olopade OI;Larson RA;	20	Inherited mutations in cancer susceptibility genes are common among survivors of breast cancer who develop therapy-related leukemia	Cancer	26641009
Malkin D;Li FP;Strong LC;Fraumeni JF;Nelson CE;Kim DH;Kassel J;Gryka MA;Bischoff FZ;Tainsky MA;	1990	Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms	Science	1978757
Srivastava S;Zou ZQ;Pirollo K;Blattner W;Chang EH;	1990	Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome	Nature	91080929
Chung R;Whaley J;Kley N;Anderson K;Louis D;Menon A;Hettlich C;Freiman R;Hedley-Whyte ET;Martuza R;	1991	TP53 gene mutations and 17p deletions in human astrocytomas	Genes Chromosomes Cancer	1686725
Law JC;Strong LC;Chidambaram A;Ferrell RE;	1991	A germ line mutation in exon 5 of the p53 gene in an extended cancer family	Cancer Res	1933902
Metzger AK;Sheffield VC;Duyk G;Daneshvar L;Edwards MS;Cogen PH;	1991	Identification of a germ-line mutation in the p53 gene in a patient with an intracranial ependymoma	Proc Natl Acad Sci U S A	1679237
Warneford SG;Witton LJ;Townsend ML;Rowe PB;Reddel RR;Dalla-Pozza L;Symonds G;	1992	Germ-line splicing mutation of the p53 gene in a cancer-prone family	Cell Growth Differ	1467311
Kovar H;Auinger A;Jug G;Muller T;Pillwein K;	1992	p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree	Oncogene	1359493
Borresen AL;Andersen TI;Garber J;Barbier-Piraux N;Thorlacius S;Eyfjord J;Ottestad L;Smith-Sorensen B;Hovig E;Malkin D;	1992	Screening for germ line TP53 mutations in breast cancer patients	Cancer Res	1591732
Coles C;Condie A;Chetty U;Steel CM;Evans HJ;Prosser J;	1992	p53 mutations in breast cancer	Cancer Res	1394133
Sidransky D;Tokino T;Helzlsouer K;Zehnbauer B;Rausch G;Shelton B;Prestigiacomo L;Vogelstein B;Davidson N;	1992	Inherited p53 gene mutations in breast cancer	Cancer Res	1581912
Prosser J;Porter D;Coles C;Condie A;Thompson AM;Chetty U;Steel CM;Evans HJ;	1992	Constitutional p53 mutation in a non-Li-Fraumeni cancer family	Br J Cancer	1562462
Malkin D;Jolly KW;Barbier N;Look AT;Friend SH;Gebhardt MC;Andersen TI;Borresen AL;Li FP;Garber J;	1992	Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms	N Engl J Med	1565144
Toguchida J;Yamaguchi T;Dayton SH;Beauchamp RL;Herrera GE;Ishizaki K;Yamamuro T;Meyers PA;Little JB;Sasaki MS;	1992	Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma	N Engl J Med	92228022
Porter DE;Holden ST;Steel CM;Cohen BB;Wallace MR;Reid R;	1992	A significant proportion of patients with osteosarcoma may belong to Li- Fraumeni cancer families	J Bone Joint Surg Br	1447251
Sameshima Y;Tsunematsu Y;Watanabe S;Tsukamoto T;Kawa-ha K;Hirata Y;Mizoguchi H;Sugimura T;Terada M;Yokota J;	1992	Detection of novel germ-line p53 mutations in diverse-cancer-prone families identified by selecting patients with childhood adrenocortical carcinoma	J Natl Cancer Inst	1569604
Felix CA;Nau MM;Takahashi T;Mitsudomi T;Chiba I;Poplack DG;Reaman GH;Cole DE;Letterio JJ;Whang-Peng J;	1992	Hereditary and acquired p53 gene mutations in childhood acute lymphoblastic leukemia	J Clin Invest	1737852
Iavarone A;Matthay KK;Steinkirchner TM;Israel MA;	1992	Germ-line and somatic p53 gene mutations in multifocal osteogenic sarcoma	Proc Natl Acad Sci U S A	1349175
Scott RJ;Krummenacher F;Mary JL;Weber W;Spycher M;Muller H;	1993	Hereditary p53 mutation in a patient with multiple tumors: significance for genetic counseling	Schweiz Med Wochenschr	8393584
Shiseki,M.; Nishikawa,R.; Yamamoto,H.; Ochiai,A.; Sugimura,H.; Shitara,N.; Sameshima,Y.; Mizoguchi,H.; Sugimura,T.; Yokota,J.	1993	Germ-line p53 mutation is uncommon in patients with triple primary cancers	Cancer Lett	8402598
Eeles RA;Warren W;Knee G;Bartek J;Averill D;Stratton MR;Blake PR;Tait DM;Lane DP;Easton DF;	1993	Constitutional mutation in exon 8 of the p53 gene in a patient with multiple primary tumours: molecular and immunohistochemical findings	Oncogene	8479749
Felix CA;Strauss EA;D'Amico D;Tsokos M;Winter S;Mitsudomi T;Nau MM;Brown DL;Leahey AM;Horowitz ME;	1993	A novel germline p53 splicing mutation in a pediatric patient with a second malignant neoplasm	Oncogene	8479743
Brugieres L;Gardes M;Moutou C;Chompret A;Meresse V;Martin A;Poisson N;Flamant F;Bonaiti-Pellie C;Lemerle J;	1993	Screening for germ line p53 mutations in children with malignant tumors and a family history of cancer	Cancer Res	8425176
Kupryjanczyk J;Thor AD;Beauchamp R;Merritt V;Edgerton SM;Bell DA;Yandell DW;	1993	p53 gene mutations and protein accumulation in human ovarian cancer	Proc Natl Acad Sci U S A	8506342
Birch JM;Hartley AL;Tricker KJ;Prosser J;Condie A;Kelsey AM;Harris M;Jones PH;Binchy A;Crowther D;	1994	Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families	Cancer Res	8118819
Gutierrez MI;Bhatia KG;Barreiro C;Spangler G;Schvartzmann E;Muriel FS;Magrath IT;	1994	A de novo p53 germline mutation affecting codon 151 in a six year old child with multiple tumors	Hum Mol Genet	7881428
Bardeesy N;Falkoff D;Petruzzi MJ;Nowak N;Zabel B;Adam M;Aguiar MC;Grundy P;Shows T;Pelletier J;	1994	Anaplastic Wilms' tumour, a subtype displaying poor prognosis, harbours p53 gene mutations	Nat Genet	8075648
Horio Y;Suzuki H;Ueda R;Koshikawa T;Sugiura T;Ariyoshi Y;Shimokata K;Takahashi T;Takahashi T;	1994	Predominantly tumor-limited expression of a mutant allele in a Japanese family carrying a germline p53 mutation	Oncogene	8134126
Jolly KW;Malkin D;Douglass EC;Brown TF;Sinclair AE;Look AT;	1994	Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer	Oncogene	8302608
Mazoyer S;Lalle P;Moyret-Lalle C;Marcais C;Schraub S;Frappaz D;Sobol H;Ozturk M;	1994	Two germ-line mutations affecting the same nucleotide at codon 257 of p53 gene, a rare site for mutations	Oncogene	8134127
Plummer SJ;Santibanez-Koref M;Kurosaki T;Liao S;Noble B;Fain PR;Anton-Culver H;Casey G;	1994	A germline 2.35 kb deletion of p53 genomic DNA creating a specific loss of the oligomerization domain inherited in a Li-Fraumeni syndrome family	Oncogene	7936651
Stolzenberg MC;Brugieres L;Gardes M;Dessarps-Freichey F;Chompret A;Bressac B;Lenoir G;Bonaiti-Pellie C;Lemerle J;Feunteun J;	1994	Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family	Oncogene	8084585
McIntyre JF;Smith-Sorensen B;Friend SH;Kassell J;Borresen AL;Yan YX;Russo C;Sato J;Barbier N;Miser J;	1994	Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma	J Clin Oncol	8164043
Grayson GH;Moore S;Schneider BG;Saldivar V;Hensel CH;	1994	Novel germline mutation of the p53 tumor suppressor gene in a child with incidentally discovered adrenal cortical carcinoma	Am J Pediatr Hematol Oncol	7978053
Kyritsis AP;Bondy ML;Xiao M;Berman EL;Cunningham JE;Lee PS;Levin VA;Saya H;	1994	Germline p53 gene mutations in subsets of glioma patients	J Natl Cancer Inst	94141961
Wagner J;Portwine C;Rabin K;Leclerc JM;Narod SA;Malkin D;	1994	High frequency of germline p53 mutations in childhood adrenocortical cancer	J Natl Cancer Inst	7966399
Hamelin R;Barichard F;Henry I;Junien C;Thomas G;	1994	Single base pair germ-line deletion in the p53 gene in a cancer predisposed family	Hum Genet	8034301
Diller L;Sexsmith E;Gottlieb A;Li FP;Malkin D;	1995	Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma	J Clin Invest	7706467
Li YJ;Sanson M;Hoang-Xuan K;Delattre JY;Poisson M;Thomas G;Hamelin R;	1995	Incidence of germ-line p53 mutations in patients with gliomas	Int J Cancer	8550239
MacGeoch C;Turner G;Bobrow LG;Barnes DM;Bishop DT;Spurr NK;	1995	Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining	J Med Genet	7783166
Lubbe J;von Ammon K;Watanabe K;Hegi ME;Kleihues P;	1995	Familial brain tumour syndrome associated with a p53 germline deletion of codon 236	Brain Pathol	7767487
Bang YJ;Kang SH;Kim TY;Jung CW;Oh SM;Choe KJ;Kim NK;	1995	The first documentation of Li-Fraumeni syndrome in Korea	J Korean Med Sci	8527048
Shay JW;Tomlinson G;Piatyszek MA;Gollahon LS;	1995	Spontaneous in vitro immortalization of breast epithelial cells from a patient with Li-Fraumeni syndrome	Mol Cell Biol	7799951
Felix CA;Slavc I;Dunn M;Strauss EA;Phillips PC;Rorke LB;Sutton L;Bunin GR;Biegel JA;	1995	p53 gene mutations in pediatric brain tumors	Med Pediatr Oncol	7565304
Strauss EA;Hosler MR;Herzog P;Salhany K;Louie R;Felix CA;	1995	Complex replication error causes p53 mutation in a Li-Fraumeni family	Cancer Res	7614454
Frebourg T;Barbier N;Yan YX;Garber JE;Dreyfus M;Fraumeni J Jr;Li FP;Friend SH;	1995	Germ-Line p53 mutations in 15 families with Li-Fraumeni syndrome	Am J Hum Genet	7887414
Chen P;Iavarone A;Fick J;Edwards M;Prados M;Israel MA;	1995	Constitutional p53 mutations associated with brain tumors in young adults	Cancer Genet Cytogenet	7664239
Flaman JM;Frebourg T;Moreau V;Charbonnier F;Martin C;Chappuis P;Sappino APLIM;Bron L;Benhattar J;Tada M;Van Meir EG;Estreicher A;Iggo RD;	1995	A simple p53 functional assay for screening cell lines, blood, and tumors	Proc Natl Acad Sci U S A	7732013
Dockhorn-Dworniczak B;Wolff J;Poremba C;Schafer KL;Ritter J;Gullotta F;Jurgens H;Bocker W;	1996	A new germline TP53 gene mutation in a family with Li-Fraumeni syndrome	Eur J Cancer	8869100
Giunta C;Youil R;Venter D;Chow CW;Somers G;Lafferty A;Kemper B;Cotton RG;	1996	Rapid diagnosis of germline p53 mutation using the enzyme mismatch cleavage method	Diagn Mol Pathol	8955618
Varley JM;McGown G;Thorncroft M;Cochrane S;Morrison P;Woll P;Kelsey AM;Mitchell EL;Boyle J;Birch JM;Evans DG;	1996	A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome	Oncogene	8649785
Sun,X.F.; Johannsson,O.; Hakansson,S.; Sellberg,G.; Nordenskjold,B.; Olsson,H.; Borg,A.	1996	A novel p53 germline alteration identified in a late onset breast cancer kindred	Oncogene	8710380
Speiser P;Gharehbaghi-Schnell E;Eder S;Haid A;Kovarik J;Nenutil R;Sauter G;Schneeberger CH;Vojtesek B;Wiltschke CH;Zeillinger R;	1996	A constitutional de novo mutation in exon 8 of the p53 gene in a patient with multiple primary malignancies	Br J Cancer	8688334
Felix CA;Hosler MR;Provisor D;Salhany K;Sexsmith EA;Slater DJ;Cheung NK;Winick NJ;Strauss EA;Heyn R;Lange BJ;Malkin D;	1996	The p53 gene in pediatric therapy-related leukemia and myelodysplasia	Blood	8639798
Varley JM;Thorncroft M;McGown G;Tricker K;Birch JM;Evans DG;	1996	A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni- like syndrome, and LOH in a benign lesion from a mutation carrier	Cancer Genet Cytogenet	8780740
Cornelis RS;van Vliet M;van de Vijver MJ;Vasen HF;Voute PA;Top B;Khan PM;Devilee P;Cornelisse CJ;	1997	Three germline mutations in the TP53 gene	Hum Mutat	9067756
Lomax ME;Barnes DM;Gilchrist R;Picksley SM;Varley JM;Camplejohn RS;	1997	Two functional assays employed to detect an unusual mutation in the oligomerisation domain of p53 in a Li-Fraumeni like family	Oncogene	9150393
Avigad S;Barel D;Blau O;Malka A;Zoldan M;Mor C;Fogel M;Cohen IJ;Stark B;Goshen Y;Stein J;Zaizov R;	1997	A novel germ line p53 mutation in intron 6 in diverse childhood malignancies	Oncogene	9129144
Ponten F;Berg C;Ahmadian A;Ren ZP;Nister M;Lundeberg J;Uhlen M;Ponten J;	1997	Molecular pathology in basal cell cancer with p53 as a genetic marker	Oncogene	9285560
Goi K;Takagi M;Iwata S;Delia D;Asada M;Donghi R;Tsunematsu Y;Nakazawa S;Yamamoto H;Yokota J;Tamura K;Saeki Y;Utsunomiya J;Takahashi T;Ueda R;Ishioka C;Eguchi M;Kamata N;Mizutani S;	1997	DNA damage-associated dysregulation of the cell cycle and apoptosis control in cells with germ-line p53 mutation	Cancer Res	9157982
Varley JM;McGown G;Thorncroft M;Santibanez-Koref MF;Kelsey AM;Tricker KJ;Evans DG;Birch JM;	1997	Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families	Cancer Res	9242456
Saeki Y;Tamura K;Yamamoto Y;Hatada T;Furuyama J;Utsunomiya J;	1997	Germline p53 mutation at codon 133 in a cancer-prone family	J Mol Med	9020384
Orellana C;Martinez F;Hernandez-Marti M;Castel V;Canete A;Prieto F;Badia L;	1998	A novel TP53 germ-line mutation identified in a girl with a primitive neuroectodermal tumor and her father	Cancer Genet Cytogenet	9723024
Luca JW;Strong LC;Hansen MF;	1998	A germline missense mutation R337C in exon 10 of the human p53 gene	Hum Mutat	9452042
Bot FJ;Sleddens HF;Dinjens WN;	1998	Molecular assessment of clonality leads to the identification of a new germ line TP53 mutation associated with malignant cystosarcoma phyllodes and soft tissue sarcoma	Diagn Mol Pathol	10207667
Ayan I;Luca JW;Jaffe N;Yazici H;Ekmekcioglu S;Hansen MF;	1998	Germline mutations of the p53 gene in children with malignant solid tumors	J Exp Clin Cancer Res	10089074
Murakawa Y;Yokoyama A;Kato S;Yoshioka T;Ichinohasama R;Kumabe T;Yoshimoto T;Ishioka C;Kanamaru R;	1998	Astrocytoma and B-cell lymphoma development in a man with a p53 germline mutation	Jpn J Clin Oncol	9839505
Pivnick EK;Furman WL;Velagaleti GV;Jenkins JJ;Chase NA;Ribeiro RC;	1998	Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation	J Med Genet	9598730
Reifenberger J;Janssen G;Weber RG;Bostrom J;Engelbrecht V;Lichter P;Borchard F;Gobel U;Lenard HG;Reifenberger G;	1998	Primitive neuroectodermal tumors of the cerebral hemispheres in two siblings with TP53 germline mutation	J Neuropathol Exp Neurol	9600210
Vital A;Bringuier PP;Huang H;San Galli F;Rivel J;Ansoborlo S;Cazauran JM;Taillandier L;Kleihues P;Ohgaki H;	1998	Astrocytomas and choroid plexus tumors in two families with identical p53 germline mutations	J Neuropathol Exp Neurol	9825943
Sedlacek,Z.; Kodet,R.; Seemanova,E.; Vodvarka,P.; Wilgenbus,P.; Mares,J.; Poustka,A.; Goetz,P.	1998	Two Li-Fraumeni syndrome families with novel germline p53 mutations: loss of the wild-type p53 allele in only 50% of tumours	Br J Cancer	9569035
Felix CA;Megonigal MD;Chervinsky DS;Leonard DG;Tsuchida N;Kakati S;Block AM;Fisher J;Grossi M;Salhany KI;Jani-Sait SN;Aplan PD;	1998	Association of germline p53 mutation with MLL segmental jumping translocation in treatment-related leukemia	Blood	9616138
Barel D;Avigad S;Mor C;Fogel M;Cohen IJ;Zaizov R;	1998	A novel germ-line mutation in the noncoding region of the p53 gene in a Li-Fraumeni family	Cancer Genet Cytogenet	9595036
Huusko P;Castren K;Launonen V;Soini Y;Paakkonen K;Leisti J;Vahakangas K;Winqvist R;	1999	Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2	Cancer Genet Cytogenet	10432928
Sugano K;Taniguchi T;Saeki M;Tsunematsu Y;Tomaru U;Shimoda T;	1999	Germline p53 mutation in a case of Li-Fraumeni syndrome presenting gastric cancer	Jpn J Clin Oncol	10645809
Guran S;Tunca Y;Imirzalioglu N;	1999	Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-Fraumeni syndrome family	Cancer Genet Cytogenet	10484981
Hung J;Mims B;Lozano G;Strong L;Harvey C;Chen TT;Stastny V;Tomlinson G;	1999	TP53 mutation and haplotype analysis of two large African American families	Hum Mutat	10477429
Quesnel S;Verselis S;Portwine C;Garber J;White M;Feunteun J;Malkin D;Li FP;	1999	p53 compound heterozygosity in a severely affected child with Li-Fraumeni syndrome	Oncogene	99361973
Ishii N;Tada M;Hamou MF;Janzer RC;Meagher-Villemure K;Wiestler OD;Tribolet N;Van Meir EG;	1999	Cells with TP53 mutations in low grade astrocytic tumors evolve clonally to malignancy and are an unfavorable prognostic factor	Oncogene	10557074
Yonemoto T;Tatezaki S;Ishii T;Satoh T;Inoue M;	1999	Two cases of osteosarcoma occurring as second malignancy of childhood cancer	Anticancer Res	10697617
Auer H;Warncke K;Nowak D;Koops F;Jaeger U;Kurzbauer R;Ruediger HW;	1999	Variations of p53 in cultured fibroblasts of patients with lung cancer who have a presumed genetic predisposition	Am J Clin Oncol	10362336
Zhou XP;Sanson M;Hoang-Xuan K;Robin E;Taillandier L;He J;Mokhtari K;Cornu P;Delattre JY;Thomas G;Hamelin R;	1999	Germline mutations of p53 but not p16/CDKN2 or PTEN/MMAC1 tumor suppressor genes predispose to gliomas. The ANOCEF Group. Association des NeuroOncologues d'Expression Francaise	Ann Neurol	10589545
Varley JM;McGown G;Thorncroft M;James LA;Margison GP;Forster G;Evans DG;Harris M;Kelsey AM;Birch JM;	1999	Are There Low-Penetrance TP53 Alleles? Evidence from Childhood Adrenocortical Tumors	Am J Hum Genet	10486318
Gallo O;Sardi I;Pepe G;Franchi A;Attanasio M;Giusti B;Bocciolini C;Abbate R;	1999	Multiple primary tumors of the upper aerodigestive tract: is there a role for constitutional mutations in the p53 gene?	Int J Cancer	10389749
Eeles RA;	2000	Personnal communication	Unpublished
Grzybowska E;Zientek H;Jasinska A;Rusin M;Kozlowski P;Sobczak K;Sikorska A;Kwiatkowska E;Gorniak L;Kalinowska E;Utracka-Hutka B;Wloch J;Chmielik E;Krzyzosiak WJ;	2000	High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer	Hum Mutat	11102977
Verselis SJ;Rheinwald JG;Fraumeni JF;Li FP;	2000	Novel p53 splice site mutations in three families with Li-Fraumeni syndrome	Oncogene	10980596
Zajac V;Tomka M;Ilencikova D;Majek P;Stevurkova V;Kirchhoff T;	2000	A double germline mutations in the APC and p53 genes	Neoplasma	11263856
Chompret A;Brugieres L;Ronsin M;Gardes M;Dessarps-Freichey F;Abel A;Hua D;Ligot L;Dondon MG;Bressac-de Paillerets B;Frebourg T;Lemerle J;Bonaiti-Pellie C;Feunteun J;	2000	P53 germline mutations in childhood cancers and cancer risk for carrier individuals	Br J Cancer	10864200
Tachibana I;Smith JS;Sato K;Hosek SM;Kimmel DW;Jenkins RB;	2000	Investigation of germline PTEN, p53, p16(INK4A)/p14(ARF), and CDK4 alterations in familial glioma	Am J Med Genet	10797439
Vahteristo P;Tamminen A;Karvinen P;Eerola H;Eklund C;Aaltonen LA;Blomqvist C;Aittomaki K;Nevanlinna H;	2001	p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition	Cancer Res	11479205
Parham DM;Eccles DM;	2001	Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome	Breast	14965603
Malkin D;Chilton-MacNeill S;Meister LA;Sexsmith E;Diller L;Garcea RL;	2001	Tissue-specific expression of SV40 in tumors associated with the Li- Fraumeni syndrome	Oncogene	11494139
Varley,J.M.; Attwooll,C.; White,G.; McGown,G.; Thorncroft,M.; Kelsey,A.M.; Greaves,M.; Boyle,J.; Birch,J.M.	2001	Characterization of germline TP53 splicing mutations and their genetic and functional analysis	Oncogene	11420676
Kimura K;Shinmura K;Hasegawa T;Beppu Y;Yokoyama R;Yokota J;	2001	Germline p53 mutation in a patient with multiple primary cancers	Jpn J Clin Oncol	11518751
Bougeard G;Limacher JM;Martin C;Charbonnier F;Killian A;Delattre O;Longy M;Jonveaux P;Fricker JP;Stoppa-Lyonnet D;Flaman JM;Frebourg T;	2001	Detection of 11 germline inactivating TP53 mutations and absence of TP63 and HCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome	J Med Genet	11370630
Rapakko K;Allinen M;Syrjakoski K;Vahteristo P;Huusko P;Vahakangas K;Eerola H;Kainu T;Kallioniemi OP;Nevanlinna H;Winqvist R;	2001	Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites	Br J Cancer	11139324
Latronico AC;Pinto EM;Domenice S;Fragoso MC;Martin RM;Zerbini MC;Lucon AM;Mendonca BB;	2001	An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors	J Clin Endocrinol Metab	11600572
Joachim T;Ram Z;Rappaport ZH;Simon M;Schramm J;Wiestler OD;von Deimling A;	2001	Comparative analysis of the NF2, TP53, PTEN, KRAS, NRAS and HRAS genes in sporadic and radiation-induced human meningiomas	Int J Cancer	11668501
Ribeiro RC;Sandrini F;Figueiredo B;Zambetti GP;Michalkiewicz E;Lafferty AR;DeLacerda L;Rabin M;Cadwell C;Sampaio G;Cat I;Stratakis CA;Sandrini R;	2001	An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma	Proc Natl Acad Sci U S A	11481490
Patrikidou A;Bennett J;Abou-Sleiman P;Delhanty JD;Harris M;	2002	A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla	Oral Oncol	12076704
Schaefer KL;Wai D;Poremba C;Diallo R;Boecker W;Dockhorn-Dworniczak B;	2002	Analysis of TP53 germline mutations in pediatric tumor patients using DNA microarray-based sequencing technology	Med Pediatr Oncol	11920788
Rutherford J;Chu CE;Duddy PM;Charlton RS;Chumas P;Taylor GR;Lu X;Barnes DM;Camplejohn RS;	2002	Investigations on a clinically and functionally unusual and novel germline p53 mutation	Br J Cancer	12085209
Balmana J;Nomdedeu J;Diez O;Sabate JM;Balil A;Pericay C;Lopez Lopez JJ;Brunet J;Baiget M;Alonso C;	2002	Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers	Med Clin (Barc)	12406399
Potzsch C;Voigtlander T;Lubbert M;	2002	p53 Germline mutation in a patient with Li-Fraumeni Syndrome and three metachronous malignancies	J Cancer Res Clin.Oncol	12200603
Lalloo F;Varley J;Ellis D;Moran A;O'Dair L;Pharoah P;Evans DG;	2003	Prediction of pathogenic mutations in patients with early-onset breast cancer by family history	Lancet	12672316
Trkova M;Foretova L;Kodet R;Hedvicakova P;Sedlacek Z;	2003	A Li-Fraumeni syndrome family with retained heterozygosity for a germline TP53 mutation in two tumors	Cancer Genet Cytogenet	12885464
Hwang SJ;Lozano G;Amos CI;Strong LC;	2003	Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk	Am J Hum Genet	12610779
Pepper C;Thomas A;Hoy T;Tighe J;Culligan D;Fegan C;Bentley P;	2003	Leukemic and non-leukemic lymphocytes from patients with Li Fraumeni syndrome demonstrate loss of p53 function, Bcl-2 family dysregulation and intrinsic resistance to conventional chemotherapeutic drugs but not flavopiridol	Cell Cycle	12695689
Nichols KE;Heath JA;Friedman D;Biegel JA;Ganguly A;Mauch P;Diller L;	2003	TP53, BRCA1, and BRCA2 Tumor Suppressor Genes Are Not Commonly Mutated in Survivors of Hodgkin's Disease With Second Primary Neoplasms	J Clin Oncol	14673037
Bougeard G;Brugieres L;Chompret A;Gesta P;Charbonnier F;Valent A;Martin C;Raux G;Feunteun J;Bressac-de Paillerets B;Frebourg T;	2003	Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene	Oncogene	12584563
Patino-Garcia A;Pineiro ES;Diez MZ;Iturriagagoitia LG;Klussmann FA;Ariznabarreta LS;	2003	Genetic and epigenetic alterations of the cell cycle regulators and tumor suppressor genes in pediatric osteosarcomas	J Pediatr Hematol Oncol	12759621
Wong SS;Lozano G;Gaff CL;Gardner RJ;Strong LC;Aittomaki K;Lindeman GJ;	2003	Novel p53 germline mutation in a patient with Li-Fraumeni syndrome	Intern Med J	14656244
Martin AM;Kanetsky PA;Amirimani B;Colligon TA;Athanasiadis G;Shih HA;Gerrero MR;Calzone K;Rebbeck TR;Weber BL;	2003	Germline TP53 mutations in breast cancer families with multiple primary cancers: is TP53 a modifier of BRCA1?	J Med Genet	12676907
Miyaki M;Iijima T;Ohue M;Kita Y;Hishima T;Kuroki T;Iwama T;Mori T;	2003	A novel case with germline p53 gene mutation having concurrent multiple primary colon tumours	Gut	12524418
Lynch HT;Deters CA;Hogg D;Lynch JF;Kinarsky Y;Gatalica Z;	2003	Familial sarcoma: challenging pedigrees	Cancer	14584079
Bendig I;Mohr N;Kramer F;Weber BH;	2004	Identification of novel TP53 mutations in familial and sporadic cancer cases of German and Swiss origin	Cancer Genet Cytogenet	15381368
Suarez CR;Bertolone SJ;Raj AB;Coventry S;	2004	Second malignant neoplasms in childhood acute lymphoblastic leukemia: primitive neuroectodermal tumor of the chest wall with germline p53 mutation as a second malignant neoplasm	Am J Hematol	15114597
Sarin R;	2004	Personnal communication	Unpublished
Nogales FF;Musto ML;Saez AI;Robledo M;Palacios J;Aneiros J;	2004	Multifocal intrafollicular granulosa cell tumor of the ovary associated with an unusual germline p53 mutation	Mod Pathol	15073606
Avigad S;Peleg D;Barel D;Benyaminy H;Ben Baruch N;Taub E;Shohat M;Goshen Y;Cohen IJ;Yaniv I;Zaizov R;	2004	Prenatal diagnosis in Li-Fraumeni syndrome	J Pediatr Hematol Oncol	15342977
Yonemoto T;Tatezaki S;Ishii T;Hagiwara Y;Inoue M;	2004	Multiple primary cancers in patients with osteosarcoma: influence of anticancer drugs and genetic factors	Am J Clin Oncol	15170137
Oliveira C;Ferreira P;Nabais S;Campos L;Ferreira A;Cirnes L;Alves CC;Veiga I;Fragoso M;Regateiro F;Dias LM;Moreira H;Suriano G;Machado JC;Lopes C;Castedo S;Carneiro F;Seruca R;	2004	E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients	Eur J Cancer	15288293
Keller G;Vogelsang H;Becker I;Plaschke S;Ott K;Suriano G;Mateus AR;Seruca R;Biedermann K;Huntsman D;Doring C;Holinski-Feder E;Neutzling A;Siewert JR;Hofler H;	2004	Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients	J Med Genet	15173255
Khayat CM;Johnston DL;	2004	Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation	Pediatr Blood Cancer	15390294
Kim IJ;Kang HC;Shin Y;Park HW;Jang SG;Han SY;Lim SK;Lee MR;Chang HJ;Ku JL;Yang HK;Park JG;	2004	A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome	J Hum Genet	15368100
Hedau S;Jain N;Husain SA;Mandal AK;Ray G;Shahid M;Kant R;Gupta V;Shukla NK;Deo SS;Das BC;	2004	Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India	Breast Cancer Res Treat	15564800
Guran S;Ozet A;Dede M;Gille JJ;Yenen MC;	2005	Hereditary breast cancer syndromes in a Turkish population. Results of molecular germline analysis	Cancer Genet Cytogenet	15993273
Rieske P;Zakrzewska M;Biernat W;Bartkowiak J;Zimmermann A;Liberski PP;	2005	Atypical molecular background of glioblastoma and meningioma developed in a patient with Li-Fraumeni syndrome	J Neurooncol	15719270
Sandrini F;Villani DP;Tucci S;Moreira AC;de Castro M;Elias LL;	2005	Inheritance of R337H p53 gene mutation in children with sporadic adrenocortical tumor	Horm Metab Res	15952083
Chao MM;Levine JE;Ruiz RE;Kohlmann WK;Bower MA;Petty EM;Mody RJ;	2005	Malignant triton tumor in a patient with Li-Fraumeni syndrome and a novel TP53 mutation	Pediatr Blood Cancer	16333835
Siddiqui R;Onel K;Facio F;Nafa K;Diaz LR;Kauff N;Huang H;Robson M;Ellis N;Offit K;	2005	The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds	Fam Cancer	15951970
Capponcelli S;Pedrini E;Cerone MA;Corti V;Fontanesi S;Alessio M;Bachi A;Soddu S;Ribatti D;Picci P;Helman LJ;Cantelli-Forti G;Sangiorgi L;	2005	Evaluation of the molecular mechanisms involved in the gain of function of a Li-Fraumeni TP53 mutation	Hum Mutat	15977174
Cavalier ME;Davis MM;Croop JM;	2005	Germline p53 mutation presenting as synchronous tumors	J Pediatr Hematol Oncol	16096528
Dickens DS;Dothage JA;Heideman RL;Ballard ET;Jubinsky PT;	2005	Successful treatment of an unresectable choroid plexus carcinoma in a patient with Li-Fraumeni syndrome	J Pediatr Hematol Oncol	15654279
Guran S;Beyan C;Nevruz O;Yakicier C;Tunca Y;	2005	A chronic myeloid leukemia-like syndrome case with del (12) (p12) in a Li-Fraumeni syndrome family	Clin Lab Haematol	15784129
Krutilkova V;Trkova M;Fleitz J;Gregor V;Novotna K;Krepelova A;Sumerauer D;Kodet R;Siruckova S;Plevova P;Bendova S;Hedvicakova P;Foreman NK;Sedlacek Z;	2005	Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations	Eur J Cancer	15925506
Kuribayashi K;Matsunaga T;Sakai T;Wada Y;Tateno K;Murase K;Fujimi A;Takimoto R;Terui T;Kato J;Sasaki A;Satoh M;Niitsu Y;	2005	A patient with TP53 germline mutation developed Bowen's disease and myelodysplastic syndrome with myelofibrosis after chemotherapy against ovarian cancer	Intern Med	15942101
Roque L;Lacerda A;Rodrigues R;Almeida O;Salgueiro J;Pinto C;	2005	CGH evalution of two de novo synchronous tumors in a child with a germline p53 mutation	Pediatr Blood Cancer	16206219
Poli T;Lagana F;Caradonna L;Gobbi R;Corradi D;Sesenna E;	2005	Primary orbital liposarcoma in Li-Fraumeni cancer family syndrome: a case report	Tumori	15850016
Wong P;Verselis SJ;Garber JE;Schneider K;DiGianni L;Stockwell DH;Li FP;Syngal S;	2006	Prevalence of early onset colorectal cancer in 397 patients with classic Li-Fraumeni syndrome	Gastroenterology	16401470
Walsh T;Casadei S;Coats KH;Swisher E;Stray SM;Higgins J;Roach KC;Mandell J;Lee MK;Ciernikova S;Foretova L;Soucek P;King MC;	2006	Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer	JAMA	16551709
West AN;Ribeiro RC;Jenkins J;Rodriguez-Galindo C;Figueiredo BC;Kriwacki R;Zambetti GP;	2006	Identification of a novel germ line variant hotspot mutant p53-R175L in pediatric adrenal cortical carcinoma	Cancer Res	16707427
Stecher CW;Gronbaek K;Hasle H;	2006	A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor	Pediatr Blood Cancer	17066464
Ruijs MW;Verhoef S;Wigbout G;Pruntel R;Floore AN;de Jong D;van T;Menko FH;	2006	Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation	Fam Cancer	16736287
Anensen N;Skavland J;Stapnes C;Ryningen A;Borresen-Dale AL;Gjertsen BT;Bruserud O;	2006	Acute myelogenous leukemia in a patient with Li-Fraumeni syndrome treated with valproic acid, theophyllamine and all-trans retinoic acid: a case report	Leukemia	16437140
Lefrou L;Godart B;de Muret A;Scotto B;Dorval E;	2006	[Germline tp53 neomutation in a patient with li-fraumeni syndrome and pancreatic adenocarcinoma]	Gastroenterol Clin Biol	16633321
Figueiredo BC;Sandrini R;Zambetti GP;Pereira RM;Cheng C;Liu W;Lacerda L;Pianovski MA;Michalkiewicz E;Jenkins J;Rodriguez-Galindo C;Mastellaro MJ;Vianna S;Watanabe F;Sandrini F;Arram SB;Boffetta P;Ribeiro RC;	2006	Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation	J Med Genet	16033918
Krasteva ME;Georgieva EI;	2006	Germline p53 single-base changes associated with Balkan endemic nephropathy	Biochem Biophys Res Commun	16487937
Vranic S;Kapur L;Foco F;Bilalovic N;Hainaut P;	2006	The first case of Li-Fraumeni syndrome in Bosnia and Herzegovina: case report	Pathologica	16929790
Achatz MI;Olivier M;Calvez FL;Martel-Planche G;Lopes A;Rossi BM;Ashton-Prolla P;Giugliani R;Palmero EI;Vargas FR;Rocha JC;Vettore AL;Hainaut P;	2007	The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families	Cancer Lett	16494995
Idbaih A;Boisselier B;Sanson M;Criniere E;Liva S;Marie Y;Carpentier C;Paris S;Laigle-Donadey F;Mokhtari K;Kujas M;Hoang-Xuan K;Delattre O;Delattre JY;	2007	Tumor genomic profiling and TP53 germline mutation analysis of first-degree relative familial gliomas	Cancer Genet Cytogenet	17656254
Tabori U;Nanda S;Druker H;Lees J;Malkin D;	2007	Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome	Cancer Res	17308077
Monnerat C;Chompret A;Kannengiesser C;Avril MF;Janin N;Spatz A;Guinebretiere JM;Marian C;Barrois M;Boitier F;Lenoir GM;Bressac-de Paillerets B;	2007	BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma	Fam Cancer	17624602
Schiffman JD;Chun N;Fisher PG;Dahl GV;Ford JM;Eggerding FA;	2007	Identification of a novel p53 in-frame deletion in a Li-Fraumeni-like family	Pediatr Blood Cancer	17554785
Rossbach HC;Baschinsky D;Wynn T;Obzut D;Sutcliffe M;Tebbi C;	2007	Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation	Pediatr Blood Cancer	17427234
van Hest LP;Ruijs MW;Wagner A;van der Meer CA;Verhoef S;Van't Veer LJ;Meijers-Heijboer H;	2007	Two TP53 germline mutations in a classical Li-Fraumeni syndrome family	Fam Cancer	17318340
Senzer N;Nemunaitis J;Nemunaitis M;Lamont J;Gore M;Gabra H;Eeles R;Sodha N;Lynch FJ;Zumstein LA;Menander KB;Sobol RE;Chada S;	2007	p53 therapy in a patient with Li-Fraumeni syndrome	Mol Cancer Ther	17483435
Bemis LT;Robinson WA;McFarlane R;Buyers E;Kelly K;Varella-Garcia M;Mitchell JD;Franklin WA;	2007	EGFR-mutant lung adenocarcinoma in a patient with Li-Fraumeni syndrome	Lancet Oncol	17540308
Veschi S;Aceto G;Scioletti AP;Gatta V;Palka G;Cama A;Mariani-Costantini R;Battista P;Calo V;Barbera F;Bazan V;Russo A;Stuppia L;	2007	High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability	Ann Oncol	17591842
Salmon A;Amikam D;Sodha N;Davidson S;Basel-Vanagaite L;Eeles RA;Abeliovich D;Peretz T;	2007	Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline 'De-Novo'TP53 Mutation	Clin Oncol (R Coll Radiol )	17572079
Suarez-Martinez EB;Ruiz A;Matias J;Morales L;Cruz A;Vazquez D;Villa J;Matta JL;	2007	Early-onset of sporadic basal-cell carcinoma: germline mutations in the TP53, PTCH, and XPD genes	P R Health Sci J	18246963
Yamada H;Shinmura K;Okudela K;Goto M;Suzuki M;Kuriki K;Tsuneyoshi T;Sugimura H;	2007	Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population	Carcinogenesis	17690113
Manoukian S;Peissel B;Pensotti V;Barile M;Cortesi L;Stacchiotti S;Terenziani M;Barbera F;Pasquini G;Frigerio S;Pierotti MA;Radice P;Della-Torre G;	2007	Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families	Eur J Cancer	17224268
Trahair T;Andrews L;Cohn RJ;	2007	Recognition of Li Fraumeni syndrome at diagnosis of a locally advanced extremity rhabdomyosarcoma	Pediatr Blood Cancer	16534790
Trkova M;Prochazkova K;Krutilkova V;Sumerauer D;Sedlacek Z;	2007	Telomere length in peripheral blood cells of germline TP53 mutation carriers is shorter than that of normal individuals of corresponding age	Cancer	17567834
Arcand SL;Maugard CM;Ghadirian P;Robidoux A;Perret C;Zhang P;Fafard E;Mes-Masson AM;Foulkes WD;Provencher D;Narod SA;Tonin PN;	2008	Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families	Breast Cancer Res Treat	17541742
Prochazkova K;Foretova L;Sedlacek Z;	2008	A rare tumor and an ethical dilemma in a family with a germline TP53 mutation	Cancer Genet Cytogenet	18068537
Palmero EI;Schuler-Faccini L;Caleffi M;Achatz MI;Olivier M;Martel-Planche G;Marcel V;Aguiar E;Giacomazzi J;Ewald IP;Giugliani R;Hainaut P;shton-Prolla P;	2008	Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil	Cancer Lett	18248785
Ariffin H;Martel-Planche G;Daud SS;Ibrahim K;Hainaut P;	2008	Li-Fraumeni syndrome in a Malaysian kindred	Cancer Genet Cytogenet	18786442
Plon SE;Pirics ML;Nuchtern J;Hicks J;Russell H;Agrawal S;Zbuk K;Eng C;Hegde M;Chin EL;	2008	Multiple tumors in a child with germ-line mutations in TP53 and PTEN	N Engl J Med	18669439
Assumpcao JG;Seidinger AL;Mastellaro MJ;Ribeiro RC;Zambetti GP;Ganti R;Srivastava K;Shurtleff S;Pei D;Zeferino LC;Dufloth RM;Brandalise SR;Yunes JA;	2008	Association of the germline TP53 R337H mutation with breast cancer in southern Brazil	BMC Cancer	19046423
Izawa N;Matsumoto S;Manabe J;Tanizawa T;Hoshi M;Shigemitsu T;Machinami R;Kanda H;Takeuchi K;Miki Y;Arai M;Shirahama S;Kawaguchi N;	2008	A Japanese patient with Li-Fraumeni syndrome who had nine primary malignancies associated with a germline mutation of the p53 tumor-suppressor gene	Int J Clin Oncol	18307025
Hwang SM;Lee ES;Shin SH;Kong SY;	2008	Genetic counseling can influence the course of a suspected familial cancer syndrome patient: from a case of Li-Fraumeni like syndrome with a germline mutation in the TP53 gene	Korean J Lab Med	19127115
Delaney HM;Prauner RD;Person DA;	2008	Germline p53 mutation in a Micronesian child with adrenocortical carcinoma and subsequent osteosarcoma	J Pediatr Hematol Oncol	18989156
Becherini F;Castagna M;Iannelli A;Favre C;Abbruzzese A;Caligo MA;Bertacca G;Pingitore R;Bevilacqua G;Cavazzana AO;	2008	Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation	Neuropathol Appl Neurobiol	18208484
Agarwalla PK;Dunn IF;Turner CD;Ligon KL;Schneider KA;Smith ER;	2008	A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature	Pediatr Neurosurg	19127094
Russell-Swetek A;West AN;Mintern JE;Jenkins J;Rodriguez-Galindo C;Ribeiro R;Zambetti GP;	2008	Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma	J Med Genet	18762572
Bougeard G;Sesboue R;Baert-Desurmont S;Vasseur S;Martin C;Tinat J;Brugieres L;Chompret A;de Paillerets BB;Stoppa-Lyonnet D;Bonaiti-Pellie C;Frebourg T;	2008	Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families	J Med Genet	18511570
Yamada H;Shinmura K;Yamamura Y;Kurachi K;Nakamura T;Tsuneyoshi T;Yokota N;Maekawa M;Sugimura H;	2009	Identification and characterization of a novel germline p53 mutation in a patient with glioblastoma and colon cancer	Int J Cancer	19405127
Valva P;Becker P;Streitemberger P;Lombardi GM;Rey G;Guzman CA;Preciado MV;	2009	Germline TP53 mutations and single nucleotide polymorphisms in children	Medicina (B Aires)	19414295
Janavicius R;	2009	Direct Submission	Unpublished
Verma I;Hainaut P;	2009	IARC data	Unpublished
Ariffin H;Hainaut P;	2009	IARC data	Unpublished
Vranic S;Hainaut P;	2009	IARC data	Unpublished
Ginsburg OM;Akbari MR;Aziz Z;Young R;Lynch H;Ghadirian P;Robidoux A;Londono J;Vasquez G;Gomes M;Costa MM;Dimitrakakis C;Gutierrez G;Pilarski R;Royer R;Narod SA;	2009	The prevalence of germ-line TP53 mutations in women diagnosed with breast cancer before age 30	Fam Cancer	19714488
Ko JH;Lee HS;Hong J;Hwang JS;	2009	Virilizing adrenocortical carcinoma in a child with Turner syndrome and somatic TP53 gene mutation	Eur J Pediatr	19701813
Pinto C;Veiga I;Pinheiro M;Peixoto A;Pinto A;Lopes JM;Reis RM;Oliveira C;Baptista M;Roque L;Regateiro F;Cirnes L;Hofstra RM;Seruca R;Castedo S;Teixeira MR;	2009	TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset	Fam Cancer	19468865
Schniederjan MJ;Shehata B;Brat DJ;Esiashvili N;Janss AJ;	2009	De novo germline TP53 mutation presenting with synchronous malignancies of the central nervous system	Pediatr Blood Cancer	19711436
Shin HJ;Kwon YJ;Lim YJ;Park BK;Ghim TT;Shin SH;Kong SY;Hong EK;Park HJ;	2009	Family of Li-Fraumeni Syndrome with a Germline Mutation in the p53 Gene	Clin Pediatr Hematol Oncol
Taja-Chayeb L;Vidal-Millan S;Gutierrez-Hernandez O;Trejo-Becerril C;Perez-Cardenas E;Chavez-Blanco A;de lC;Duenas-Gonzalez A;	2009	Identification of a novel germ-line mutation in the TP53 gene in a Mexican family with Li-Fraumeni syndrome	World J Surg Oncol	20017945
Fiszer-Maliszewska L;Kazanowska B;Padzik J;	2009	p53 tetramerization domain mutations: germline R342X and R342P, and somatic R337G identified in pediatric patients with Li-Fraumeni syndrome and a child with adrenocortical carcinoma	Fam Cancer	19714490
Marcel V;Palmero EI;Falagan-Lotsch P;Martel-Planche G;shton-Prolla P;Olivier M;Brentani RR;Hainaut P;Achatz MI;	2009	TP53PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis	J Med Genet	19542078
Schwarzbraun T;Obenauf AC;Langmann A;Gruber-Sedlmayr U;Wagner K;Speicher MR;Kroisel PM;	2009	Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing	J Med Genet	19269943
Gonzalez KD;Buzin CH;Noltner KA;Gu D;Li W;Malkin D;Sommer SS;	2009	High frequency of de novo mutations in Li-Fraumeni syndrome	J Med Genet	19556618
Rieber J;Remke M;Hartmann C;Korshunov A;Burkhardt B;Sturm D;Mechtersheimer G;Wittmann A;Greil J;Blattmann C;Witt O;Behnisch W;Halatsch ME;Orakcioglu B;von DA;Lichter P;Kulozik A;Pfister S;	2009	Novel oncogene amplifications in tumors from a family with Li-Fraumeni syndrome	Genes Chromosomes Cancer	19378321
Lin MT;Shieh JJ;Chang JH;Chang SW;Chen TC;Hsu WH;	2009	Early detection of adrenocortical carcinoma in a child with Li-Fraumeni syndrome	Pediatr Blood Cancer	19101993
Capra V;Consales A;Nozza P;Monti P;Inga A;Fronza G;	2009	Identification of a novel TP53 germline mutation in a large Italian Li-Fraumeni syndrome Family	Pediatr Blood Cancer	18937320
Ang P;Lim IH;Yong RY;Lee AS;	2009	A molecular approach for identifying individuals with Li-Fraumeni syndrome who have a limited family history	Clin Genet	19250386
Si N;Sun M;Lu CX;Liu YS;Qi Z;Yang W;Zhao XL;Zhang X;	2009	[Identification of a novel TP53 germline mutation in one child with adrenocortical carcinoma.]	Zhonghua Yi Xue Za Zhi	19671334
Cao AY;Jin W;Shi PC;Di GH;Shen ZZ;Shao ZM;	2009	Identification and characterization of two novel germ line p53 mutations in the non-LFS/non-LFL breast cancer families in Chinese population	Breast Cancer Res Treat	19238535
Xian W;Miron A;Roh M;Semmel DR;Yassin Y;Garber J;Oliva E;Goodman A;Mehra K;Berkowitz RS;Crum CP;Quade BJ;	2010	The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube	J Pathol	19834951
Landolsi S;Gharbi O;Zrig M;Gribaa M;Njim L;Zakhama A;Abid A;Frebourg T;Ahmed SB;	2010	Li Fraumeni syndrome: a case with multiple primary cancers and presenting a germline p53 mutation	Ann Biol Clin (Paris)	20478780
Mouchawar J;Korch C;Byers T;Pitts TM;Li E;McCredie MR;Giles GG;Hopper JL;Southey MC;	2010	Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer: Australian Breast Cancer Family Study	Cancer Res	20501846
Saxena R;Kohli S;Guleria K;Verma IC;	2010	Novel human pathological mutations. Gene symbol: TP53. Disease: Li-Fraumeni syndrome	Hum Genet	21488255
Pinto EM;Ribeiro RC;Kletter GB;Lawrence JP;Jenkins JJ;Wang J;Shurtleff S;McGregor L;Kriwacki RW;Zambetti GP;	2010	Inherited germline TP53 mutation encodes a protein with an aberrant C-terminal motif in a case of pediatric adrenocortical tumor	Fam Cancer	20967502
Heymann S;Delaloge S;Rahal A;Caron O;Frebourg T;Barreau L;Pachet C;Mathieu MC;Marsiglia H;Bourgier C;	2010	Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome	Radiat Oncol	21059199
Robertson LB;Armstrong GN;Olver BD;Lloyd AL;Shete S;Lau C;Claus EB;Barnholtz-Sloan J;Lai R;Il'yasova D;Schildkraut J;Bernstein JL;Olson SH;Jenkins RB;Yang P;Rynearson AL;Wrensch M;McCoy L;Wienkce JK;McCarthy B;Davis F;Vick NA;Johansen C;Bodtcher H;Sadetzk	2010	Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation	Fam Cancer	20455025
Debelenko LV;Perez-Atayde AR;Dubois SG;Grier HE;Pai SY;Shamberger RC;Kozakewich HP;	2010	p53+/mdm2- atypical lipomatous tumor/well-differentiated liposarcoma in young children: an early expression of Li-Fraumeni syndrome	Pediatr Dev Pathol	20028212
Karakas Z;Tugcu D;Unuvar A;Atay D;Akcay A;Gedik H;Kayserili H;Dogan O;Anak S;Devecioglu O;	2010	Li-Fraumeni syndrome in a Turkish family	Pediatr Hematol Oncol	20426520
De Moura J;Kavalec FL;Doghman M;Rosati R;Custodio G;Lalli E;Cavallari GM;Santa MJ;Figueiredo BC;	2010	Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage	Int J Oncol	20198344
Ide H;Terado Y;Tokiwa S;Nishio K;Saito K;Isotani S;Kamiyama Y;Muto S;Imamura T;Horie S;	2010	Novel germ line mutation p53-P177R in adult adrenocortical carcinoma producing neuron-specific enolase as a possible marker	Jpn J Clin Oncol	20421238
Ruijs MW;Verhoef S;Rookus MA;Pruntel R;van der Hout AH;Hogervorst FB;Kluijt I;Sijmons RH;Aalfs CM;Wagner A;Ausems MG;Hoogerbrugge N;van Asperen CJ;Gomez Garcia EB;Meijers-Heijboer H;Ten Kate LP;Menko FH;van ';	2010	TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes	J Med Genet	20522432
Wilson JR;Bateman AC;Hanson H;An Q;Evans G;Rahman N;Jones JL;Eccles DM;	2010	A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations	J Med Genet	20805372
Kim MK;Cho HS;Bae YK;Lee KH;Ki CS;Lee ST;Hyun MS;	2010	Therapy-related myeloid neoplasm in a patient with TP53 mutation: a dilemma in allogeneic stem cell transplant	Leuk Lymphoma	20443677
Momota H;Narita Y;Miyakita Y;Hosono A;Makimoto A;Shibui S;	2010	Acute lymphoblastic leukemia after temozolomide treatment for anaplastic astrocytoma in a child with a germline TP53 mutation	Pediatr Blood Cancer	20658636
Blanco A;Grana B;Fachal L;Santamarina M;Cameselle-Teijeiro J;Ruiz-Ponte C;Carracedo A;Vega A;	2010	Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN	Clin Genet	19930417
Link DC;Schuettpelz LG;Shen D;Wang J;Walter MJ;Kulkarni S;Payton JE;Ivanovich J;Goodfellow PJ;Le BM;Koboldt DC;Dooling DJ;Fulton RS;Bender RH;Fulton LL;Delehaunty KD;Fronick CC;Appelbaum EL;Schmidt H;Abbott R;O'Laughlin M;Chen K;McLellan MD;Varghese N;Nag	2011	Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML	JAMA	21505135
Sugawara W;Arai Y;Kasai F;Fujiwara Y;Haruta M;Hosaka R;Nishida K;Kurosumi M;Kobayashi Y;Akagi K;Kaneko Y;	2011	Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li-Fraumeni or Li-Fraumeni-like syndrome	Genes Chromosomes Cancer	21484931
Wu CC;Krahe R;Lozano G;Zhang B;Wilson CD;Jo EJ;Amos CI;Shete S;Strong LC;	2011	Joint effects of germ-line TP53 mutation, MDM2 SNP309, and gender on cancer risk in family studies of Li-Fraumeni syndrome	Hum Genet	21305319
Ariffin H;	2011	IARC data	Unpublished
Achatz MI;	2011	IARC data	Unpublished
Custodio G;Taques GR;Figueiredo BC;Gugelmin ES;Oliveira Figueiredo MM;Watanabe F;Pontarolo R;Lalli E;Torres LF;	2011	Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil	PLoS One	21445348
Ferrarini A;uteri-Kaczmarek A;Pica A;Boesch N;Heinimann K;Schafer SC;Vesnaver-Megalo S;Cina V;Beckmann JS;Monnerat C;	2011	Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53	Fam Cancer	21225465
Villani A;Tabori U;Schiffman J;Shlien A;Beyene J;Druker H;Novokmet A;Finlay J;Malkin D;	2011	Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study	Lancet Oncol	21601526
Curry S;Ibrahim F;Grehan D;McDermott M;Capra M;Betts D;O'Sullivan M;	2011	Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation	Pediatr Dev Pathol	21054160
Wozniak A;Fryer A;Grimer R;Mc DH;	2011	Multiple malignancies in a child with de novo TP53 mutation	Pediatr Hematol Oncol	21345075
Kato T;Ishikawa K;Satoh M;Kondo S;Kaji M;	2011	Pleomorphic carcinoma of the lung arising in a patient with Li-Fraumeni syndrome: report of a case	Surg Today	21626334
Lima LO;Lerario AM;Alencar GA;Brito LP;Almeida MQ;Domenice S;Latronico AC;Mendonca BB;Fragoso MC;	2011	Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor	Arq Bras Endocrinol Metabol	21468523
Herrmann LJ;Heinze B;Fassnacht M;Willenberg HS;Quinkler M;Reisch N;Zink M;Allolio B;Hahner S;	2012	TP53 germline mutations in adult patients with adrenocortical carcinoma	J Clin Endocrinol Metab	22170717
Ismael O;Shimada A;Hama A;Elshazley M;Muramatsu H;Goto A;Sakaguchi H;Tanaka M;Takahashi Y;Yinyan X;Fukuda M;Miyajima Y;Yamashita Y;Horibe K;Hanada R;Ito M;Kojima S;	2012	De novo childhood myelodysplastic/myeloproliferative disease with unique molecular characteristics	Br J Haematol	22571758
Melhem-Bertrandt A;Bojadzieva J;Ready KJ;Obeid E;Liu DD;Gutierrez-Barrera AM;Litton JK;Olopade OI;Hortobagyi GN;Strong LC;Arun BK;	2012	Early onset HER2-positive breast cancer is associated with germline TP53 mutations	Cancer	21761402
Osumi T;Miharu M;Fuchimoto Y;Morioka H;Kosaki K;Shimada H;	2012	The germline TP53 mutation c.722 C>T promotes bone and liver tumorigenesis at a young age	Pediatr Blood Cancer	22887876
Rausch T;Jones DT;Zapatka M;Stutz AM;Zichner T;Weischenfeldt J;Jager N;Remke M;Shih D;Northcott PA;Pfaff E;Tica J;Wang Q;Massimi L;Witt H;Bender S;Pleier S;Cin H;Hawkins C;Beck C;von DA;Hans V;Brors B;Eils R;Scheurlen W;Blake J;Benes V;Kulozik AE;Witt O;Martin D;Zhang C;Porat R;Merino DM;Wasserman J;Jabado N;Fontebasso A;Bullinger L;Rucker FG;Dohner K;Dohner H;Koster J;Molenaar JJ;Versteeg R;Kool M;Tabori U;Malkin D;Korshunov A;Taylor MD;Lichter P;Pfister SM;Korbel JO;	2012	Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations	Cell	22265402
Waldmann J;Patsalis N;Fendrich V;Langer P;Saeger W;Chaloupka B;Ramaswamy A;Fassnacht M;Bartsch DK;Slater EP;	2012	Clinical impact of TP53 alterations in adrenocortical carcinomas	Langenbecks Arch Surg	22203015
Choong S;Latiff Z;Mohamed M;Lim L;Chen K;Vengidasan L;Razali H;Abdul RE;Ariffin H;	2012	Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations	Clin Genet	22233476
Piao J;Sakurai N;Iwamoto S;Nishioka J;Nakatani K;Komada Y;Mizutani S;Takagi M;	2012	Functional studies of a novel germline p53 splicing mutation identified in a patient with Li-Fraumeni-like syndrome	Mol Carcinog	22495821
Magnusson S;Gisselsson D;Wiebe T;Kristoffersson U;Borg A;Olsson H;	2012	Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: A population-based survey	Pediatr Blood Cancer	22653678
Pennington KP;Walsh T;Lee M;Pennil C;Novetsky AP;Agnew KJ;Thornton A;Garcia R;Mutch D;King MC;Goodfellow P;Swisher EM;	2012	BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma	Cancer	22811390
Pinto EM;Ribeiro RC;Li J;Taja-Chayeb L;Carrasco LF;de LP;Vidal-Millan S;Maldonado-Mtz H;Duenas-Gonzalez A;McGregor L;Zambetti GP;	2012	An identical, complex TP53 mutation arising independently in two unrelated families with diverse cancer profiles: the complexity of interpreting cancer risk in carriers	Oncogenesis	23552518
Gomes MC;Kotsopoulos J;de Almeida GL;Costa MM;Vieira R;Filho FA;Pitombo MB;PR FL;Royer R;Zhang P;Narod SA;	2012	The R337H mutation in TP53 and breast cancer in Brazil	Hered Cancer Clin Pract	22455664
McCuaig JM;Armel SR;Novokmet A;Ginsburg OM;Demsky R;Narod SA;Malkin D;	2012	Routine TP53 testing for breast cancer under age 30: ready for prime time?	Fam Cancer	22851211
Kast K;Krause M;Schuler M;Friedrich K;Thamm B;Bier A;Distler W;Kruger S;	2012	Late onset Li-Fraumeni syndrome with bilateral breast cancer and other malignancies: case report and review of the literature	BMC Cancer	22672556
Lee DS;Yoon SY;Looi LM;Kang P;Kang IN;Sivanandan K;Ariffin H;Thong MK;Chin KF;Mohd Taib NA;Yip CH;Teo SH;	2012	Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients	Breast Cancer Res	22507745
Aurtenetxe SO;Calvo B;Fernandez-Teijeiro A;Perez P;Navajas A;	2012	A prospective biological study in relation to a family with Li-Fraumeni syndrome	Clin Transl Oncol	22551548
Schulz E;Valentin A;Ulz P;Beham-Schmid C;Lind K;Rupp V;Lackner H;Wolfler A;Zebisch A;Olipitz W;Geigl J;Berghold A;Speicher MR;Sill H;	2012	Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms	J Med Genet	22652532
Rath MG;Masciari S;Gelman R;Miron A;Miron P;Foley K;Richardson AL;Krop IE;Verselis SJ;Dillon DA;Garber JE;	2013	Prevalence of germline TP53 mutations in HER2+ breast cancer patients	Breast Cancer Res Treat	23580068
Wang PY;Ma W;Park JY;Celi FS;Arena R;Choi JW;Ali QA;Tripodi DJ;Zhuang J;Lago CU;Strong LC;Talagala SL;Balaban RS;Kang JG;Hwang PM;	2013	Increased oxidative metabolism in the Li-Fraumeni syndrome	N Engl J Med	23484829
Mai P;	2013	Direct submission	Unpublished
Serra V;Vivancos A;Puente XS;Felip E;Silberschmidt D;Caratu G;Parra JL;De Mattos-Arruda L;Grueso J;Hernandez-Losa J;Arribas J;Prudkin L;Nuciforo P;Scaltriti M;Seoane J;Baselga J;	2013	Clinical response to a lapatinib-based therapy for a Li-Fraumeni syndrome patient with a novel HER2V659E mutation	Cancer Discov	23950206
Mitchell G;Ballinger ML;Wong S;Hewitt C;James P;Young MA;Cipponi A;Pang T;Goode DL;Dobrovic A;Thomas DM;	2013	High Frequency of Germline TP53 Mutations in a Prospective Adult-Onset Sarcoma Cohort	PLoS One	23894400
Carraro DM;Koike Folgueira MA;Garcia Lisboa BC;Ribeiro Olivieri EH;Vitorino Krepischi AC;de Carvalho AF;de Carvalho Mota LD;Puga RD;do Socorro MM;Michelli RA;de Lyra EC;Grosso SH;Soares FA;de Souza Waddington Achatz MI;Brentani H;Moreira-Filho CA;Brentani MM;	2013	Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil	PLoS One	23469205
de Bruin MA;Ford JM;Kurian AW;	2013	A young woman with bilateral breast cancer: identifying a genetic cause and implications for management	J Natl Compr Canc Netw	23667202
Giacomazzi J;Selistre S;Duarte J;Ribeiro JP;Vieira PJ;de Souza MG;Rossi C;Czepielewski M;Netto CB;Hainaut P;shton-Prolla P;	2013	TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient	BMC Cancer	23570263
Heitzer E;Lax S;Lafer I;Muller SM;Pristauz G;Ulz P;Jahn S;Hogenauer C;Petru E;Speicher MR;Geigl JB;	2013	Multiplex genetic cancer testing identifies pathogenic mutations in TP53 and CDH1 in a patient with bilateral breast and endometrial adenocarcinoma	BMC Med Genet	24373500
Pinto EM;Morton C;Rodriguez-Galindo C;McGregor L;Davidoff AM;Mercer K;Debelenko LV;Billups C;Ribeiro RC;Zambetti GP;	2013	Establishment and characterization of the first pediatric adrenocortical carcinoma xenograft model identifies topotecan as a potential chemotherapeutic agent	Clin Cancer Res	23406775
Cho Y;Kim J;Kim Y;Jeong J;Lee KA;	2013	A case of late-onset Li-Fraumeni-like syndrome with unilateral breast cancer	Ann Lab Med	23667851
Zerdoumi Y;ury-Landas J;Bonaiti-Pellie C;Derambure C;Sesboue R;Renaux-Petel M;Frebourg T;Bougeard G;Flaman JM;	2013	Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients	Hum Mutat	23172776
Yoshimura J;Natsumeda M;Nishihira Y;Nishiyama K;Saito A;Okamoto K;Takahashi H;Fujii Y;	2013	[Radiation-induced Intracranial Osteosarcoma after Radiation for Acute Lymphocytic Leukemia Associated with Li-Fraumeni Syndrome]	No Shinkei Geka	23732761
Sakurai N;Iwamoto S;Miura Y;Nakamura T;Matsumine A;Nishioka J;Nakatani K;Komada Y;	2013	Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma	Pediatr Int	23409989
Chang VY;Federman N;Martinez-Agosto J;Tatishchev SF;Nelson SF;	2013	Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome	Pediatr Blood Cancer	23015295
Powell BC;Jiang L;Muzny DM;Trevino LR;Dreyer ZE;Strong LC;Wheeler DA;Gibbs RA;Plon SE;	2013	Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing	Pediatr Blood Cancer	23255406
Bell K;Hodgson N;Levine M;Sadikovic B;Zbuk K;	2014	Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer	Breast Cancer Res Treat	24916180
Hettmer S;Archer NM;Somers GR;Novokmet A;Wagers AJ;Diller L;Rodriguez-Galindo C;Teot LA;Malkin D;	2014	Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers	Cancer	24382691
Castera L;Krieger S;Rousselin A;Legros A;Baumann JJ;Bruet O;Brault B;Fouillet R;Goardon N;Letac O;Baert-Desurmont S;Tinat J;Bera O;Dugast C;Berthet P;Polycarpe F;Layet V;Hardouin A;Frebourg T;Vaur D;	2014	Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes	Eur J Hum Genet	24549055
Courtney R;Ranganathan S;	2014	Simultaneous Adrenocortical Carcinoma and Neuroblastoma in an Infant With a Novel Germline p53 Mutation	J Pediatr Hematol Oncol	25374282
Michalarea V;Calcasola M;Cane P;Tobal K;Izatt L;Spicer J;	2014	EGFR-mutated lung cancer in Li-Fraumeni syndrome	Lung Cancer	25047674
Fostira F;Konstantopoulou I;Mavroudis D;Tryfonopoulos D;Yannoukakos D;Voutsinas GE;	2014	Genetic evaluation based on family history and Her2 status correctly identifies TP53 mutations in very early onset breast cancer cases	Clin Genet	24702488
Etzold A;Schroder JC;Bartsch O;Zechner U;Galetzka D;	2014	Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome	Fam Cancer	25226867
Grant RC;Selander I;Connor AA;Selvarajah S;Borgida A;Briollais L;Petersen GM;Lerner-Ellis J;Holter S;Gallinger S;	2014	Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients With Pancreatic Cancer	Gastroenterology	25479140
Kanchi KL;Johnson KJ;Lu C;McLellan MD;Leiserson MD;Wendl MC;Zhang Q;Koboldt DC;Xie M;Kandoth C;McMichael JF;Wyczalkowski MA;Larson DE;Schmidt HK;Miller CA;Fulton RS;Spellman PT;Mardis ER;Druley TE;Graubert TA;Goodfellow PJ;Raphael BJ;Wilson RK;Ding L;	2014	Integrated analysis of germline and somatic variants in ovarian cancer	Nat Commun	24448499
Behjati S;Maschietto M;Williams RD;Side L;Hubank M;West R;Pearson K;Sebire N;Tarpey P;Futreal A;Brooks T;Stratton MR;Anderson J;	2014	A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing	PLoS One	24810334
Cury NM;Ferraz VE;Silva WA;	2014	TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families	Hered Cancer Clin Pract	24625245
Jia Y;Ali SM;Saad S;Chan CA;Miller VA;Halmos B;	2014	Successful treatment of a patient with Li-Fraumeni syndrome and metastatic lung adenocarcinoma harboring synchronous EGFR L858R and ERBB2 extracellular domain S310F mutations with the pan-HER inhibitor afatinib	Cancer Biol Ther	24835218
Oh CS;Lee JH;Jung ST;Na BR;	2014	Osteosarcoma with Adenocarcinoma of Lung in Li-Fraumeni Syndrome: A Case Report	J Korean Bone Joint Tumor Soc
Wong P;Han K;	2014	Lack of toxicity in a patient with germline TP53 mutation treated with radiotherapy	Curr Oncol	24764719
Kool M;Jones DT;Jager N;Northcott PA;Pugh TJ;Hovestadt V;Piro RM;Esparza LA;Markant SL;Remke M;Milde T;Bourdeaut F;Ryzhova M;Sturm D;Pfaff E;Stark S;Hutter S;Seker-Cin H;Johann P;Bender S;Schmidt C;Rausch T;Shih D;Reimand J;Sieber L;Wittmann A;Linke L;Wit	2014	Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition	Cancer Cell	24651015
Lechien JR;Brotchi J;Van ML;Costa de AP;Bruninx G;Hilbert P;Nubourgh Y;	2014	Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers	Neurochirurgie	24636404
Wang Z;Sun Y;Gao B;Lu Y;Fang R;Gao Y;Xiao T;Liu XY;Pao W;Zhao Y;Chen H;Ji H;	2014	Two co-existing germline mutations P53 V157D and PMS2 R20Q promote tumorigenesis in a familial cancer syndrome	Cancer Lett	23981578
Churpek JE;Walsh T;Zheng Y;Moton Z;Thornton AM;Lee MK;Casadei S;Watts A;Neistadt B;Churpek MM;Huo D;Zvosec C;Liu F;Niu Q;Marquez R;Zhang J;Fackenthal J;King MC;Olopade OI;	2015	Inherited predisposition to breast cancer among African American women	Breast Cancer Res Treat	25428789
Tung N;Battelli C;Allen B;Kaldate R;Bhatnagar S;Bowles K;Timms K;Garber JE;Herold C;Ellisen L;Krejdovsky J;DeLeonardis K;Sedgwick K;Soltis K;Roa B;Wenstrup RJ;Hartman AR;	2015	Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel	Cancer	25186627
Mirabello L;Yeager M;Mai PL;Gastier-Foster JM;Gorlick R;Khanna C;Patino-Garcia A;Sierrasesumaga L;Lecanda F;Andrulis IL;Wunder JS;Gokgoz N;Barkauskas DA;Zhang X;Vogt A;Jones K;Boland JF;Chanock SJ;Savage SA;	2015	Germline TP53 variants and susceptibility to osteosarcoma	J Natl Cancer Inst	25896519
Zhang J;Walsh MF;Wu G;Edmonson MN;Gruber TA;Easton J;Hedges D;Ma X;Zhou X;Yergeau DA;Wilkinson MR;Vadodaria B;Chen X;McGee RB;Hines-Dowell S;Nuccio R;Quinn E;Shurtleff SA;Rusch M;Patel A;Becksfort JB;Wang S;Weaver MS;Ding L;Mardis ER;Wilson RK;Gajjar A;El	2015	Germline Mutations in Predisposition Genes in Pediatric Cancer	N Engl J Med	26580448
Wasserman JD;Novokmet A;Eichler-Jonsson C;Ribeiro RC;Rodriguez-Galindo C;Zambetti GP;Malkin D;	2015	Prevalence and Functional Consequence of TP53 Mutations in Pediatric Adrenocortical Carcinoma: A Children's Oncology Group Study	J Clin Oncol	25584008
Yurgelun MB;Masciari S;Joshi VA;Mercado RC;Lindor NM;Gallinger S;Hopper JL;Jenkins MA;Buchanan DD;Newcomb PA;Potter JD;Haile RW;Kucherlapati R;Syngal S;	2015	Germline TP53 Mutations in Patients With Early-Onset Colorectal Cancer in the Colon Cancer Family Registry	JAMA Oncol	26086041
Ribi S;Baumhoer D;Lee K;Edison;Teo AS;Madan B;Zhang K;Kohlmann WK;Yao F;Lee WH;Hoi Q;Cai S;Woo XY;Tan P;Jundt G;Smida J;Nathrath M;Sung WK;Schiffman JD;Virshup DM;Hillmer AM;	2015	TP53 intron 1 hotspot rearrangements are specific to sporadic osteosarcoma and can cause Li-Fraumeni syndrome	Oncotarget	25762628
Yang X;Wu J;Lu J;Liu G;Di G;Chen C;Hou Y;Sun M;Yang W;Xu X;Zhao Y;Hu X;Li D;Cao Z;Zhou X;Huang X;Liu Z;Chen H;Gu Y;Chi Y;Yan X;Han Q;Shen Z;Shao Z;Hu Z;	2015	Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing	PLoS One	25927356
Arcand SL;Akbari MR;Mes-Masson AM;Provencher D;Foulkes WD;Narod SA;Tonin PN;	2015	Germline TP53 mutational spectrum in French Canadians with breast cancer	BMC Med Genet	25925845
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Chak BP;Chan ES;Tong JH;Leung AW;Cheng FW;Lam GK;Shing MM;Li CK;To KF;	2015	Germline TP53 mutations is common in patients with two early-onset primary malignancies	Clin Genet	25293557
Ricordel C;Labalette-Tiercin M;Lespagnol A;Kerjouan M;Dugast C;Mosser J;Desrues B;Lena H;	2015	EFGR-mutant lung adenocarcinoma and Li-Fraumeni syndrome: report of two cases and review of the literature	Lung Cancer	25433984
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Kappel S;Janschek E;Wolf B;Rudas M;Teleky B;Jakesz R;Kandioler D;	2015	TP53 germline mutation may affect response to anticancer treatments: analysis of an intensively treated Li-Fraumeni family	Breast Cancer Res Treat	25981898
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Hu H;Liu J;Liao X;Zhang S;Li H;Lu R;Li X;Lin W;Liu M;Xia Z;Qing G;Li JD;	2016	Genetic and functional analysis of a Li Fraumeni syndrome family in China	Sci Rep	26818906
Lin PH;Kuo WH;Huang AC;Lu YS;Lin CH;Kuo SH;Wang MY;Liu CY;Cheng FT;Yeh MH;Li HY;Yang YH;Hsu YH;Fan SC;Li LY;Yu SL;Chang KJ;Chen PL;Ni YH;Huang CS;	2016	Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer	Oncotarget	26824983
He KY;Zhao Y;McPherson EW;Li Q;Xia F;Weng C;Wang K;He MM;	2016	Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records	PLoS One	27930734
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Kwong A;Shin VY;Au CH;Law FB;Ho DN;Ip BK;Wong AT;Lau SS;To RM;Choy G;Ford JM;Ma ES;Chan TL;	2016	Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel	J Mol Diagn	27157322
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Thompson ER;Rowley SM;Li N;McInerny S;Devereux L;Wong-Brown MW;Trainer AH;Mitchell G;Scott RJ;James PA;Campbell IG;	2016	Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care	J Clin Oncol	26786923
Li X;Kang J;Pan Q;Sikora-Wohlfeld W;Zhao D;Meng C;Bai C;Patwardhan A;Chen R;Ren H;Butte AJ;Ding K;	2016	Genetic analysis in a patient with nine primary malignant neoplasms: a rare case of Li-Fraumeni syndrome	Oncol Rep	26707089
Park KJ;Choi HJ;Suh SP;Ki CS;Kim JW;	2016	Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome	Ann Lab Med	27374712
Li J;Meeks H;Feng BJ;Healey S;Thorne H;Makunin I;Ellis J;Campbell I;Southey M;Mitchell G;Clouston D;Kirk J;Goldgar D;Chenevix-Trench G;	2016	Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families	J Med Genet	26534844
Zebisch A;Lal R;Muller M;Lind K;Kashofer K;Girschikofsky M;Fuchs D;Wolfler A;Geigl JB;Sill H;	2016	Acute myeloid leukemia with TP53 germ line mutations	Blood	27621308
Buzby JS;Williams SA;Schaffer L;Head SR;Nugent DJ;	2017	Allele-specific wild-type TP53 expression in the unaffected carrier parent of children with Li-Fraumeni syndrome	Cancer Genet	28279309
Lolas HS;Renbaum P;Kamal L;Dweik D;Salahat M;Jaraysa T;Abu RA;Casadei S;Mandell JB;Gulsuner S;Lee MK;Walsh T;King MC;Levy-Lahad E;Kanaan M;	2017	Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP531	Int J Cancer	28486781
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Yang XR;Devi BCR;Sung H;Guida J;Mucaki EJ;Xiao Y;Best A;Garland L;Xie Y;Hu N;Rodriguez-Herrera M;Wang C;Jones K;Luo W;Hicks B;Tang TS;Moitra K;Rogan PK;Dean M;	2017	Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia	Breast Cancer Res Treat	28664506
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Hayes J;Yu Y;Jalbert LE;Mazor T;Jones LE;Wood MD;Walsh KM;Bengtsson H;Hong C;Oberndorfer S;Roetzer T;Smirnov IV;Clarke JL;Aghi MK;Chang SM;Nelson SJ;Woehrer A;Phillips JJ;Solomon DA;Costello JF;	2017	Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas	Neuro Oncol	29077933
O'Shea R;Clarke R;Berkley E;Giffney C;Farrell M;O'Donovan E;Gallagher DJ;	2017	Next generation sequencing is informing phenotype: a TP53 example	Fam Cancer	28509937
Slavin T;Neuhausen SL;Rybak C;Solomon I;Nehoray B;Blazer K;Niell-Swiller M;Adamson AW;Yuan YC;Yang K;Sand S;Castillo D;Herzog J;Wu X;Tao S;Chavez T;Woo Y;Chao J;Mora P;Horcasitas D;Weitzel J;	2017	Genetic Gastric Cancer Susceptibility in the International Clinical Cancer Genomics Community Research Network	Cancer Genet	29025585
Trubicka J;Filipek I;Piotr I;Rydzanicz M;Grajkowska W;Piekutowska-Abramczuk D;Chrzanowska K;Karkucinska-Wieckowska A;Iwanicka-Pronicka K;Pronicki M;Lastowska M;Ploski R;Dembowska-Baginska B;	2017	Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma	Cancer Genet	29025599
Sabater-Marco V;Ferrando-Roca F;Morera-Faet A;Garcia-Garcia JA;Bosch SB;Lopez-Guerrero JA;	2017	Primary Cutaneous Leiomyosarcoma Arising in a Patient With Li-Fraumeni Syndrome. A Neoplasm With Unusual Histopathologic Features and Loss of Heterozygosity at TP53 Gene	Am J Dermatopathol	28475508
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Kuhlen M;Taeubner J;Wieczorek D;Borkhardt A;	2017	Autism spectrum disorder and Li-Fraumeni syndrome: purely coincidental or mechanistically associated?	Mol Cell Pediatr	28983852
Chan SH;Lim WK;Ishak NDB;Li ST;Goh WL;Tan GS;Lim KH;Teo M;Young CNC;Malik S;Tan MH;Teh JYH;Chin FKC;Kesavan S;Selvarajan S;Tan P;Teh BT;Soo KC;Farid M;Quek R;Ngeow J;	2017	Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas	Sci Rep	28878254
Schuler N;Palm J;Schmitz S;Lorat Y;Rube CE;	2017	Increasing genomic instability during cancer therapy in a patient with Li-Fraumeni syndrome	Clin Transl Radiat Oncol	29594232
Cornelius A;Foley J;Bond J;Nagulapally AB;Steinbrecher J;Hendricks WPD;Rich M;Yendrembam S;Bergendahl G;Trent JM;Sholler GS;	2017	Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma	Front Pharmacol	28993730
Nandikolla AG;Venugopal S;Anampa J;	2017	Breast cancer in patients with Li-Fraumeni syndrome - a case-series study and review of literature	Breast Cancer (Dove Med Press)	28356770
Jalkh N;Chouery E;Haidar Z;Khater C;Atallah D;Ali H;Marafie MJ;Al-Mulla MR;Al-Mulla F;Megarbane A;	2017	Next-generation sequencing in familial breast cancer patients from Lebanon	BMC Med Genomics	28202063
Sung PL;Wen KC;Chen YJ;Chao TC;Tsai YF;Tseng LM;Qiu JT;Chao KC;Wu HH;Chuang CM;Wang PH;Huang CF;	2017	The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels	PLoS One	28961279
Andrade RC;Dos Santos AC;de Aguirre Neto JC;Nevado J;Lapunzina P;Vargas FR;	2017	TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes	Fam Cancer	27714481
Llovet P;Illana FJ;Martin-Morales L;de la Hoya M;Garre P;Ibanez-Royo MD;Perez-Segura P;Caldes T;Garcia-Barberan V;	2017	A novel TP53 germline inframe deletion identified in a Spanish series of Li-fraumeni syndrome suspected families	Fam Cancer	28573494
Saya S;Killick E;Thomas S;Taylor N;Bancroft EK;Rothwell J;Benafif S;Dias A;Mikropoulos C;Pope J;Chamberlain A;Gunapala R;Izatt L;Side L;Walker L;Tomkins S;Cook J;Barwell J;Wiles V;Limb L;Eccles D;Leach MO;Shanley S;Gilbert FJ;Hanson H;Gallagher D;Rajashan	2017	Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls	Fam Cancer	28091804
Zick A;Kadouri L;Cohen S;Frohlinger M;Hamburger T;Zvi N;Plaser M;Avital E;Breuier S;Elian F;Salah A;Goldberg Y;Peretz T;	2017	Recurrent TP53 missense mutation in cancer patients of Arab descent	Fam Cancer	27866339
Xie Y;Zhao WH;Hua Y;Sun Q;Wu PH;	2017	[A rhabdomyosarcoma patient from a Li-Fraumeni syndrome family: a case report and literature review]	Zhongguo Dang Dai Er Ke Za Zhi	29237527
Sherborne AL;Lavergne V;Yu K;Lee L;Davidson PR;Mazor T;Smirnoff IV;Horvai AE;Loh M;Dubois SG;Goldsby RE;Neglia JP;Hammond S;Robison LL;Wustrack R;Costello JF;Nakamura AO;Shannon KM;Bhatia S;Nakamura JL;	2017	Somatic and Germline TP53 Alterations in Second Malignant Neoplasms from Pediatric Cancer Survivors	Clin Cancer Res	27683180
Sun J;Meng H;Yao L;Lv M;Bai J;Zhang J;Wang L;Ouyang T;Li J;Wang T;Fan Z;Fan T;Lin B;Xie Y;	2017	Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients	Clin Cancer Res	28724667
Zerdoumi Y;Lanos R;Raad S;Flaman JM;Bougeard G;Frebourg T;Tournier I;	2017	Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage	Hum Mol Genet	28472496
Sinclair TJ;Thorson CM;Alvarez E;Tan S;Spunt SL;Chao SD;	2017	Pleomorphic myxoid liposarcoma in an adolescent with Li-Fraumeni syndrome	Pediatr Surg Int	28160093
Shindo K;Yu J;Suenaga M;Fesharakizadeh S;Cho C;Macgregor-Das A;Siddiqui A;Witmer PD;Tamura K;Song TJ;Navarro Almario JA;Brant A;Borges M;Ford M;Barkley T;He J;Weiss MJ;Wolfgang CL;Roberts NJ;Hruban RH;Klein AP;Goggins M;	2017	Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma	J Clin Oncol	28767289
Tandon B;Hagemann IS;Maluf HM;Pfeifer JD;Al-Kateb H;	2017	Association of Li-Fraumeni Syndrome With Small Cell Carcinoma of the Ovary, Hypercalcemic Type and Concurrent Pleomorphic Liposarcoma of the Cervix	Int J Gynecol Pathol	28177947
Franceschi S;Spugnesi L;Aretini P;Lessi F;Scarpitta R;Galli A;Congregati C;Caligo MA;Mazzanti CM;	2017	Whole-exome analysis of a Li-Fraumeni family trio with a novel TP53 PRD mutation and anticipation profile	Carcinogenesis	28911001
Klein JD;Kupferman ME;	2017	Li-Fraumeni syndrome presenting as mucosal melanoma: Case report and treatment considerations	Head Neck	27726232
Yoshida T;Tajika M;Tanaka T;Ishihara M;Hirayama Y;Mizuno N;Hara K;Hijioka S;Imaoka H;Hieda N;Okuno N;Kinoshita T;Bhatia V;Shimizu Y;Yatabe Y;Yamao K;Niwa Y;	2017	The Features of Colorectal Tumors in a Patient with Li-Fraumeni Syndrome	Intern Med	28154273
Krzesniak M;Butkiewicz D;Rachtan J;Matuszczyk I;Grzybowska E;Rusin M;	2017	A novel germline TP53 mutation p.Pro190Arg detected in a patient with lung and bilateral breast cancers	Adv Med Sci	28499267
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Huang KL;Mashl RJ;Wu Y;Ritter DI;Wang J;Oh C;Paczkowska M;Reynolds S;Wyczalkowski MA;Oak N;Scott AD;Krassowski M;Cherniack AD;Houlahan KE;Jayasinghe R;Wang LB;Zhou DC;Liu D;Cao S;Kim YW;Koire A;McMichael JF;Hucthagowder V;Kim TB;Hahn A;Wang C;McLellan MD;	2018	Pathogenic Germline Variants in 10,389 Adult Cancers1	Cell	29625052
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Diets IJ;Waanders E;Ligtenberg MJ;van Bladel DAG;Kamping EJ;Hoogerbrugge PM;Hopman S;Olderode-Berends MJ;Gerkes EH;Koolen DA;Marcelis C;Santen GW;van Belzen MJ;Mordaunt D;McGregor L;Thompson E;Kattamis A;Pastorczak A;Mlynarski W;Ilencikova D;van Silfhout	2018	High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer	Clin Cancer Res	29351919
Hu C;Hart SN;Polley EC;Gnanaolivu R;Shimelis H;Lee KY;Lilyquist J;Na J;Moore R;Antwi SO;Bamlet WR;Chaffee KG;DiCarlo J;Wu Z;Samara R;Kasi PM;McWilliams RR;Petersen GM;Couch FJ;	2018	Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer	JAMA	29922827
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Brehin AC;Patrier-Sallebert S;Bougeard G;Side-Pfennig G;Llamas GF;Lamy A;Colasse E;Kandel-Aznar C;Delnatte C;Vuillemin E;Sadot-Lebouvier S;Odent S;Sabourin JC;Golfier F;Frebourg T;	2018	Gestational choriocarcinoma associated with a germline TP53 mutation	Fam Cancer	28477316
Waszak SM;Northcott PA;Buchhalter I;Robinson GW;Sutter C;Groebner S;Grund KB;Brugieres L;Jones DTW;Pajtler KW;Morrissy AS;Kool M;Sturm D;Chavez L;Ernst A;Brabetz S;Hain M;Zichner T;Segura-Wang M;Weischenfeldt J;Rausch T;Mardin BR;Zhou X;Baciu C;Lawerenz C	2018	Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort	Lancet Oncol	29753700
Castillo-Guardiola V;Sarabia-Meseguer MD;Marin-Vera M;Sanchez-Bermudez AI;Alonso-Romero JL;Noguera-Velasco JA;Ruiz-Espejo F;	2018	New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer	Cancer Genet	30553462
Cipriano NM;de Brito AM;de Oliveira ES;de Faria FC;Lemos S;Rodrigues AN;de Oliveira LD;Dos Santos LL;	2018	Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil	Breast Cancer	30535581
Hatta N;Hatta Y;	2018	Germ line TP53 mutation in a patient with multiple Bowen's disease	J Dermatol	30592087
Gatineau-Sailliant S;Turcotte K;Quintal MC;Turpin S;Champagne J;Petrella T;Roussy M;Cellot S;Bouron-Dal SD;	2018	Gray Zone Lymphoma Arising in the Neck of a Teenager With a Germline Mutation in TP53	J Pediatr Hematol Oncol	30299350
Tang YJ;Yu TT;Ma J;Zhou Y;Xu M;Gao YJ;	2018	Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation: A Case Report and Literature Review	J Pediatr Hematol Oncol	29746440
Drazer MW;Kadri S;Sukhanova M;Patil SA;West AH;Feurstein S;Calderon DA;Jones MF;Weipert CM;Daugherty CK;Ceballos-Lopez AA;Raca G;Lingen MW;Li Z;Segal JP;Churpek JE;Godley LA;	2018	Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies	Blood Adv	29365323
AlHarbi M;Mubarak N;AlMubarak L;Aljelaify R;AlSaeed M;Almutairi A;AlJabarat W;Alqubaishi F;Al-Subaie L;AlTassan N;Neben CL;Zhou AY;Abedalthagafi M;	2018	Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family	NPJ Genom Med	30588330
Chan SH;Chew W;Ishak NDB;Lim WK;Li ST;Tan SH;Teo JX;Shaw T;Chang K;Chen Y;Iyer P;Tan EEK;Seng MS;Chan MY;Tan AM;Low SYY;Soh SY;Loh AHP;Ngeow J;	2018	Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours	NPJ Genom Med	30455982
Cotter JA;Szymanski L;Karimov C;Boghossian L;Margol A;Dhall G;Tamrazi B;Varaprasathan GI;Parham DM;Judkins AR;Biegel JA;	2018	Transmission of a TP53 germline mutation from unaffected male carrier associated with pediatric glioblastoma in his child and gestational choriocarcinoma in his female partner1	Cold Spring Harb Mol Case Stud	29581140
Hauke J;Horvath J;Gross E;Gehrig A;Honisch E;Hackmann K;Schmidt G;Arnold N;Faust U;Sutter C;Hentschel J;Wang-Gohrke S;Smogavec M;Weber BHF;Weber-Lassalle N;Weber-Lassalle K;Borde J;Ernst C;Altmuller J;Volk AE;Thiele H;Hubbel V;Nurnberg P;Keupp K;Versmold	2018	Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer1	Cancer Med	29522266
Ji M;Wang L;Shao Y;Cao W;Xu T;Chen S;Wang Z;He Q;Yang K;	2018	A novel dysfunctional germline P53 mutation identified in a family with Li-Fraumeni syndrome1	Am J Cancer Res	29416929
Hajkova N;Hojny J;Nemejcova K;Dundr P;Ulrych J;Jirsova K;Glezgova J;Ticha I;	2018	Germline mutation in the TP53 gene in uveal melanoma	Sci Rep	29769598
Haque MM;Kowtal P;Sarin R;	2018	Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts	Sci Rep	30076369
Blombery P;Thompson E;Ryland GL;Joyce R;Byrne DJ;Khoo C;Lade S;Hertzberg M;Hapgood G;Marlton P;Deva A;Lindeman G;Fox S;Westerman D;Prince M;	2018	Frequent activating STAT3 mutations and novel recurrent genomic abnormalities detected in breast implant-associated anaplastic large cell lymphoma	Oncotarget	30546832
Chan GHJ;Ong PY;Low JJH;Kong HL;Ow SGW;Tan DSP;Lim YW;Lim SE;Lee SC;	2018	Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers	Oncotarget	30093976
Kanke Y;Shimomura A;Saito M;Honda T;Shiraishi K;Shimada Y;Watanabe R;Yoshida H;Yoshida M;Shimizu C;Takahashi K;Totsuka H;Ogiwara H;Hirose S;Kono K;Tamura K;Okamoto A;Kinoshita T;Kato T;Kohno T;	2018	Gene aberration profile of tumors of adolescent and young adult females	Oncotarget	29464067
Kumar P;Gill RM;Phelps A;Tulpule A;Matthay K;Nicolaides T;	2018	Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives	Cureus	29946497
Pathak S;Singh SRK;Katiyar V;Mcdunn S;	2018	Epidermal Growth Factor Receptor-mutated Lung Cancer as the Initial Manifestation of Germline TP53 Mutation Associated Cancer	Cureus	29854570
Stjepanovic N;Stockley TL;Bedard PL;McCuaig JM;Aronson M;Holter S;Semotiuk K;Leighl NB;Jang R;Krzyzanowska MK;Oza AM;Gupta A;Elser C;Ahmed L;Wang L;Kamel-Reid S;Siu LL;Kim RH;	2018	Additional germline findings from a tumor profiling program	BMC Med Genomics	30092803
Freitas AC;Opiniao A;Fragoso S;Nunes H;Santos M;Clara A;Bento S;Luis A;Silva J;Moura C;Filipe B;Machado P;Santos S;Andre S;Rodrigues P;Parreira J;Vaz F;	2018	Men seeking counselling in a Breast Cancer Risk Evaluation Clinic	Ecancermedicalscience	29456621
Martin-Morales L;Rofes P;Diaz-Rubio E;Llovet P;Lorca V;Bando I;Perez-Segura P;de la Hoya M;Garre P;Garcia-Barberan V;Caldes T;	2018	Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition	PLoS One	30256826
Stoltze U;Skytte AB;Roed H;Hasle H;Ejlertsen B;Overeem Hansen TV;Schmiegelow K;Gerdes AM;Wadt K;	2018	Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark	PLoS One	29324801
Paulo P;Maia S;Pinto C;Pinto P;Monteiro A;Peixoto A;Teixeira MR;	2018	Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer	PLoS Genet	29659569
Macaulay S;Goodyear QC;Kruger M;Chen W;Essop F;Krause A;	2018	The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome	Fam Cancer	29392648
Park JS;Lee ST;Nam EJ;Han JW;Lee JY;Kim J;Kim TI;Park HS;	2018	Variants of cancer susceptibility genes in Korean BRCA1/2 mutation-negative patients with high risk for hereditary breast cancer	BMC Cancer	29338689
Wang YA;Jian JW;Hung CF;Peng HP;Yang CF;Cheng HS;Yang AS;	2018	Germline breast cancer susceptibility gene mutations and breast cancer outcomes	BMC Cancer	29566657
Doyle MR;Johnston JM;	2018	A novel p.Gly187Arg TP53 variant appears to result in Li-Fraumeni syndrome	Pediatr Hematol Oncol	30239254
Weber-Lassalle K;Harter P;Hauke J;Ernst C;Kommoss S;Marme F;Weber-Lassalle N;Prieske K;Dietrich D;Borde J;Pohl-Rescigno E;Reuss A;Ataseven B;Engel C;Stingl JC;Schmutzler RK;Hahnen E;	2018	Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial	Hum Mutat	30216591
Yamazaki F;Shima H;Osumi T;Narumi S;Kuroda T;Shimada H;	2018	Nodular Lymphocyte-predominant Hodgkin Lymphoma in a 15-Year-Old Boy With Li-Fraumeni Syndrome Having a Germline TP53 D49H Mutation	J Pediatr Hematol Oncol	28902083
Pahl L;Beier R;von NN;Auber B;Hofs M;Prott EC;Schlegelberger B;Reinhardt D;Steinemann D;	2018	Two cancer-predisposing variants in one family: Incidental finding of a fumarate hydrogenase (FH) germline variant in a family with Li-Fraumeni syndrome	Pediatr Blood Cancer	29893455
Meiss AE;Thomas M;Modesitt SC;Ring KL;Atkins KA;Mills AM;	2018	Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population	Hum Pathol	29958926
Toki T;Yoshida K;Wang R;Nakamura S;Maekawa T;Goi K;Katoh MC;Mizuno S;Sugiyama F;Kanezaki R;Uechi T;Nakajima Y;Sato Y;Okuno Y;Sato-Otsubo A;Shiozawa Y;Kataoka K;Shiraishi Y;Sanada M;Chiba K;Tanaka H;Terui K;Sato T;Kamio T;Sakaguchi H;Ohga S;Kuramitsu M;Ham	2018	De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome	Am J Hum Genet	30146126
Donner I;Katainen R;Sipila LJ;Aavikko M;Pukkala E;Aaltonen LA;	2018	Germline mutations in young non-smoking women with lung adenocarcinoma	Lung Cancer	30032850
Carter NJ;Marshall ML;Susswein LR;Zorn KK;Hiraki S;Arvai KJ;Torene RI;McGill AK;Yackowski L;Murphy PD;Xu Z;Solomon BD;Klein RT;Hruska KS;	2018	Germline pathogenic variants identified in women with ovarian tumors	Gynecol Oncol	30322717
Ferreira AM;Brondani VB;Helena VP;Charchar HLS;Zerbini MCN;Leite LAS;Hoff AO;Latronico AC;Mendonca BB;Diz MDPE;de Almeida MQ;Fragoso MCBV;	2019	Clinical spectrum of Li-Fraumeni syndrome/Li-Fraumeni-like syndrome in Brazilian individuals with the TP53 p.R337H mutation1	J Steroid Biochem Mol Biol	30974190
Li JY;Jing R;Wei H;Wang M;Xiaowei Q;Liu H;Jian L;Ou JH;Jiang WH;Tian FG;Sheng Y;Li HY;Xu H;Zhang RS;Guan AH;Liu K;Jiang HC;Ren Y;He JJ;Huang W;Liao N;Cai X;Ming J;Ling R;Xu Y;Hu CY;Zhang J;Guo B;Ouyang L;Shuai P;Liu Z;Zhong L;Zeng Z;Zhang T;Xuan Z;Tan X;L	2019	Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer	Int J Cancer	29752822
Nunziato M;Esposito MV;Starnone F;Diroma MA;Calabrese A;Del M;Buono P;Frasci G;Botti G;D'Aiuto M;Salvatore F;D'Argenio V;	2019	A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study	Anal Chim Acta	30482293
Quinn EA;Maciaszek JL;Pinto EM;Phillips AH;Berdy D;Khandwala M;Upadhyaya SA;Zambetti GP;Kriwacki RW;Ellison DW;Nichols KE;Kesserwan C;	2019	From uncertainty to pathogenicity: Clinical and functional interrogation of a rare TP53 in-frame deletion	Cold Spring Harb Mol Case Stud	30886117
Aceto GM;Awadelkarim KD;Di NM;Moscatello C;Pantalone MR;Verginelli F;Elwali NE;Mariani-Costantini R;	2019	Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors	Breast Cancer Res Treat	30796655
Abe T;Blackford AL;Tamura K;Ford M;McCormick P;Chuidian M;Almario JA;Borges M;Lennon AM;Shin EJ;Klein AP;Hruban RH;Canto MI;Goggins M;	2019	Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance	J Clin Oncol	30883245
Tan GIL;Merchant K;Tan EEK;Low DCY;Ng LP;Seow WT;Low SYY;	2019	A germline variant of TP53 in paediatric diffuse leptomeningeal glioneuronal tumour	Childs Nerv Syst	30937530
Ow SGW;Ong PY;Lee SC;	2019	Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world	PLoS One	30875412
Henn J;Spier I;Adam RS;Holzapfel S;Uhlhaas S;Kayser K;Plotz G;Peters S;Aretz S;	2019	Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes	Hered Cancer Clin Pract	30680046
Bakhuizen JJ;Hogervorst FB;Velthuizen ME;Ruijs MW;van EK;van Os TA;Gille JJ;Collee M;van den Ouweland AM;van Asperen CJ;Kets CM;Mensenkamp AR;Leter EM;Blok MJ;de Jong MM;Ausems MG;	2019	TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort	Fam Cancer	30607672
Brown NJ;Bhatia K;Teague J;White SM;Lo P;Challis J;Beshay V;Sullivan M;Malkin D;Hansford JR;	2019	Report of a bi-allelic truncating germline mutation in TP53	Fam Cancer	29737433
Gallardo-Alvarado LN;Tusie-Luna MT;Tussie-Luna MI;Diaz-Chavez J;Segura YX;Bargallo-Rocha E;Villarreal C;Herrera-Montalvo LA;Herrera-Medina EM;Cantu-de Leon DF;	2019	Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population	BMC Cancer	30709381
Yurgelun MB;Chittenden AB;Morales-Oyarvide V;Rubinson DA;Dunne RF;Kozak MM;Qian ZR;Welch MW;Brais LK;Da SA;Bui JL;Yuan C;Li T;Li W;Masuda A;Gu M;Bullock AJ;Chang DT;Clancy TE;Linehan DC;Findeis-Hosey JJ;Doyle LA;Thorner AR;Ducar MD;Wollison BM;Khalaf N;Pe	2019	Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer	Genet Med	29961768
Petridis C;Arora I;Shah V;Megalios A;Moss C;Mera A;Clifford A;Gillett C;Pinder SE;Tomlinson I;Roylance R;Simpson MA;Sawyer EJ;	2019	Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years	Breast Cancer Res	31060593
Baek YS;Seo JY;Song JY;Lee SY;Kim A;Jeon J;	2019	Li-Fraumeni syndrome presenting as cutaneous melanoma in a child: case report and review of literature	J Eur Acad Dermatol Venereol	30653764

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