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

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