| Adrenocortical ca. |
chidren (<=18 years) with ADC |
6 |
3 |
50.0 |
None |
7966399 |
| Rhabdomyosarcoma |
Sporadic cases |
33 |
3 |
9.0 |
None |
7706467 |
| Rhabdomyosarcoma |
Sporadic cases < 4 years old |
13 |
3 |
23.0 |
None |
7706467 |
| LFL-B |
LFL-B |
18 |
4 |
22.2 |
None |
9242456 |
| LFS |
LFS |
21 |
15 |
71.5 |
None |
9242456 |
| LFS |
LFS |
15 |
8 |
53.3 |
None |
9569035 |
| Adrenocortical ca. |
Chidren <15 years with ADC and without significant family history |
14 |
12 |
86.0 |
None |
10486318 |
| Sarcoma + Breast ca. |
Probands with sarcoma and BC (BC in proband or in a first degree relative) in family not fulfilling LFS |
21 |
1 |
4.8 |
None |
12471212 |
| Osteosarcoma |
Cases < 20 years old |
71 |
7 |
9.8 |
None |
12610779 |
| STS |
Cases < 16 years old |
107 |
9 |
8.4 |
None |
12610779 |
| Breast + Ovary ca. |
Probands from families with 4 or more cases of BC or ovarian cancer but negative for commercial genetic test results of BRCA1 and BRCA2 |
300 |
3 |
1.0 |
None |
16551709 |
| Breast ca. |
Unrelated women < 30 years old with NO family history of cancer |
63 |
2 |
3.0 |
None |
16644204 |
| Breast ca. |
Unrelated women with BC < 30 years old with family history (HBCO or LFL) |
37 |
2 |
5.0 |
None |
16644204 |
| Breast ca. & Cutaneous melanoma |
Female and male with BC&melanoma or Melanoma&BC |
82 |
2 |
2.4 |
None |
17624602 |
| Sarcoma + Breast ca. |
Unrelated individuals from families with one case of sarcoma and at least one case of breast cancer |
23 |
3 |
13.0 |
Of 3 mutated cases, 1 was LFS and 2 LFL |
17224268 |
| Breast ca. |
BRCA1 and BRCA2 mutation-negative breast and/or ovarian cancer families of French Canadian descent |
52 |
2 |
3.8 |
None |
17541742 |
| LFS Chompret |
French families suggestive of LFS, including 232 families fulfilling Chompret criteria |
474 |
82 |
17.3 |
None |
18511570 |
| Breast ca. |
Unrelated women < 30 years old negative for BRCA1/2 mutation, not LFS/LFL |
95 |
2 |
2.1 |
The 2 cases were silent mutations |
19714488 |
| Breast ca. |
Unrelated women < 36 years old with NO family history and negative for BRCA1/2 mutation |
128 |
5 |
4.0 |
None |
19652052 |
| Breast ca. |
Unrelated women < 36 years old with family history and negative for BRCA1/2 mutation |
161 |
12 |
7.4 |
None |
19652052 |
| Breast ca. |
Women < 30 years old with no cancer in first- or second-degree relatives |
14 |
1 |
7.1 |
None |
19204208 |
| Family history of various cancer types |
Probands with family history of cancer whose DNA was submitted to genetic testing at City of Hope CMDL |
525 |
91 |
17.3 |
None |
19204208 |
| Family history of various cancer types |
Probands having two or more cancers in families with history of various cancer types |
122 |
37 |
30.3 |
None |
19556618 |
| Breast ca. |
Women with early-onset breast cancer or affected relatives from four breast disease clinical centers in China |
240 |
2 |
0.8 |
None |
19238535 |
| Breast ca. |
Women <30 yo, irrespective of family history |
52 |
2 |
3.8 |
None |
20501846 |
| Breast ca. |
Women between 30-39 and with two or more 1st or 2nd relatives with BC or OC |
42 |
3 |
7.1 |
None |
20501846 |
| Brain glioma |
Familial glioma |
101 |
1 |
1.0 |
None |
20455025 |
| Stomach ca. |
Probands with primary gastric cancer in LFL families (only exons 5-8 analyzed) |
23 |
0 |
0.0 |
None |
19674071 |
| Choroid plexus papilloma |
Choroid plexus papilloma |
6 |
0 |
0.0 |
None |
20308654 |
| Choroid plexus ca. |
Choroid plexus carcinomas |
18 |
8 |
44.4 |
None |
20308654 |
| LFS |
LFS |
11 |
8 |
73.0 |
None |
20522432 |
| LFL-B |
LFL-B |
36 |
10 |
28.0 |
None |
20522432 |
| Chompret revised |
Chompret revised |
105 |
22 |
21.0 |
None |
20522432 |
| Breast + Ovary ca. |
BRCA negative HBOC |
64 |
0 |
0.0 |
only exons 5-8 analyzed |
21203900 |
| Osteosarcoma |
Pediatric tumors |
41 |
3 |
7.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21192060 |
| Choroid plexus ca. |
Pediatric tumors |
13 |
9 |
69.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21192060 |
| Adrenocortical ca. |
Pediatric tumors |
70 |
65 |
93.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21192060 |
| Choroid plexus papilloma |
Cases from a single Institution |
7 |
0 |
0.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21445348 |
| Choroid plexus ca. |
Cases from a single Institution |
22 |
14 |
63.6 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21445348 |
| Breast ca. |
included in TP53 genetic testing because of relevant personal and/or family history |
109 |
30 |
28.0 |
None |
21761402 |
| Adrenocortical ca. |
Adult onset |
103 |
4 |
3.9 |
None |
22170717 |
| Choroid plexus tumor |
Pediatric tumors |
5 |
0 |
0.0 |
None |
22653678 |
| Adrenocortical ca. |
Pediatric tumors |
3 |
1 |
33.3 |
None |
22653678 |
| Rhabdomyosarcoma |
Pediatric tumors |
18 |
1 |
50.5 |
None |
22653678 |
| Endometrial serous carcinoma |
Unselected |
151 |
2 |
1.3 |
None |
22811390 |
| Breast ca. |
Unselected invasive cases (20-60 years) |
390 |
2 |
0.5 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
22455664 |
| Breast ca. |
BRCA negative <30 years old |
28 |
6 |
21.4 |
None |
22851211 |
| Breast ca. |
BRCA negative <37 years old |
83 |
4 |
4.8 |
None |
22507745 |
| Breast ca. |
Women < 35 years, BRCA1/2 negative |
83 |
5 |
6.0 |
None |
22507745 |
| Breast phyllodes tumors. |
Unselected |
148 |
8 |
5.4 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
23794094 |
| Pediatric cancers |
Children with cancers |
292 |
11 |
3.7 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
24122735 |
| Sarcoma |
Adult onset |
556 |
17 |
3.0 |
None |
23894400 |
| Breast ca. |
Cases < 35 years old |
43 |
1 |
2.3 |
None |
23469205 |
| Adrenocortical ca. |
Children diagnosed with ACT within 5 years after neonatal screening for TP53 R337H variant |
13 |
11 |
85.0 |
Frequency of ACT differed significantly between newborns negative (two of 171,188) and positive (11 of 461) for the R337H mutation |
23733769 |
| Adrenocortical ca. |
Unselected cases |
53 |
4 |
7.5 |
None |
23175693 |
| Breast + Ovary ca. |
Patients analyzed in the context of a genetic session and fulfilling criteria for HBOC |
708 |
7 |
0.98 |
None |
24549055 |
| Pancreatic ca. |
Cohort of pancreatic cancer |
290 |
1 |
0.3 |
None |
25479140 |
| Breast ca. |
Cohort of Portuguese women diagnosed with breast cancer, unselected for a family history of the disease. |
573 |
0 |
0.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
25052705 |
| Ovarian ca. |
TCGA exome sequenced cases |
429 |
1 |
0.002 |
None |
24448499 |
| Breast ca. |
BC affected Brazilian women with a familial history (FH) suggestive of hereditary cancer syndrome but no LFS/LFL features |
59 |
2 |
3.4 |
None |
24936644 |
| Breast ca. |
BC affected Brazilian women unselected for cancer FH, diagnosed with BC at or before age 45 or at age 55 or older |
815 |
70 |
8.6 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
24936644 |
| Breast ca. |
Unrelated women diagnosed with breast cancer that fulfilled the criteria for HBOC genetic testing according to NCCN Clinical Practice Guidelines in Oncology v.1.2010 |
28 |
2 |
7.1 |
None |
24625245 |
| Brain medulloblastoma |
Adult SHH-MB cases |
49 |
0 |
0.0 |
None |
24651015 |
| Brain medulloblastoma |
Infant (<=3 years) SHH-MB cases |
50 |
0 |
0.0 |
None |
24651015 |
| Brain medulloblastoma |
Childhood (4-17 years) SHH-MB cases |
30 |
9 |
30.0 |
None |
24651015 |
| Osteosarcoma |
Unselected osteosarcoma cases >=30 years old |
51 |
0 |
0.0 |
None |
25896519 |
| Osteosarcoma |
Unselected osteosarcoma cases <30 years old |
505 |
48 |
9.5 |
None |
25896519 |
| Breast ca. |
Consecutive cases of breast cancers submitted to Myriad Genetic Laboratories for
BRCA1/2 testing and not mutated for BRCA1/2 |
76 |
2 |
2.6 |
None |
25186627 |
| Pediatric cancers |
Cancer patients younger than 20 years of age |
1120 |
54 |
4.8 |
None |
26580448 |
| Breast ca. |
African-american with BC<45 or history of BC or OV ca. |
289 |
1 |
0.35 |
None |
25428789 |
| Adrenocortical ca. |
Chidren (<=20 years) with ADC |
68 |
34 |
50.0 |
None |
25584008 |
| Colorectal ca. |
Population-based and clinic-based CRC <= 40 years lacking a known hereditary cancer syndrome |
457 |
6 |
1.3 |
None |
26086041 |
| Breast ca. |
Hereditary BC: BC < 35 years+one relative with any cancer, or BC at 35-50 years+two relatives with any cancer, or BC > 50 years+three relatives with any cancer |
99 |
3 |
3.0 |
None |
25927356 |
| Neuroblastoma |
Pediatric cases |
83 |
7 |
8.4 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
26452166 |
| Breast ca. Triple negative |
Triple-Negative Breast Cancer cases from the Triple-Negative Breast Cancer Consortium |
2148 |
2 |
0.09 |
updated with PMID:30099541 |
25452441 |
| Ovarian ca. |
ovarian, fallopian tube, or peritoneal carcinoma at age 40 years or younger |
47 |
0 |
0.0 |
None |
26718727 |
| Breast + Ovary ca. |
Cases with personnal or family history of breast and/or ovarian cancer referred to the Cancer Genetics Service at the National Cancer Centre Singapore |
220 |
5 |
2.3 |
None |
29263802 |
| Breast ca. |
Early-onset breast cancer (<=35), or bilateral breast cancer, or family history of breast or ovarian cancer |
133 |
2 |
0.15 |
None |
26824983 |
| Colorectal ca. |
unrelated cases of undefined-familial CRC <55 years old that were negative for a mutation in a known cancer susceptibility genes for CRC |
857 |
1 |
0.12 |
None |
27356891 |
| Breast + Ovary ca. |
High-risk breast and/or ovarian cancer probands recruited by the Hong Kong Hereditary and High Risk Breast Cancer Program from 2007 to 2014. |
948 |
5 |
0.52 |
None |
27157322 |
| Advanced cancer |
Patients with metastatic or inoperable locally advanced or recurrent cancer |
1000 |
10 |
10.0 |
None |
26787237 |
| Breast ca. |
HER2 positive BC in women younger than 40 years old |
304 |
9 |
2.9 |
None |
26681682 |
| Breast ca. |
ascertained from the Hunter Area Pathology Service, Newcastle, Australia5
BC cases from the Hunter Area Pathology Service, Newcastle, Australia and from the Variants in Practice Study from the combined Familial Cancer Centers, Melbourne, Australia |
999 |
5 |
0.5 |
None |
26786923 |
| Breast ca. |
Non-BRCA1/2 families from the Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab). |
684 |
6 |
0.9 |
None |
26534844 |
| t-AML |
therapy-related Acute Myeloid leukemia |
107 |
6 |
5.6 |
None |
27621308 |
| AML |
de novo Acute Myeloid leukemia |
72 |
1 |
1.4 |
None |
27621308 |
| Ovarian ca. |
women with invasive epithelial ovarian cancer recruited between October 2008 and February 2015 at University Malaya Medical Centre in Kuala Lumpur |
218 |
0 |
0.0 |
NGS sequencing |
26541979 |
| Breast ca. |
Male breast cancer cases who underwent multi gen panel testing at Ambry Genetics between 2012 and 2016 |
708 |
0 |
0.0 |
None |
28008555 |
| Breast ca. |
Invasive breast cancer cases diagnosed and treated from 2010 to 2015 at Sarawak
General Hospital |
464 |
2 |
0.5 |
None |
28664506 |
| Colorectal ca. |
Individuals diagnosed with CRC age<50 evaluated by the clinical genetics service at University of Michigan Comprehensive Cancer Center between 1998 and 2015 |
430 |
1 |
0.23 |
None |
29146522 |
| Adrenocortical ca. |
Adult cases |
49 |
7 |
14.3 |
None |
29070607 |
| Choroid plexus ca. |
Children plus one adult |
47 |
17 |
39.5 |
None |
29070607 |
| Adrenocortical ca. |
Children cases |
97 |
45 |
46.4 |
None |
29070607 |
| Breast ca. |
Nationwide sample of women with primary breast cancer <40 years old referred for hereditary cancer genetic testing by Ambry Genetics Inc between March 15, 2012 and June 30, 2016. |
8009 |
32 |
0.4 |
None |
28418444 |
| Breast ca. |
Nationwide sample of women with primary breast cancer referred for hereditary cancer genetic testing by Ambry Genetics Inc between March 15, 2012 and June 30, 2016. |
38305 |
48 |
0.13 |
None |
28418444 |
| Sarcoma |
Cases < 50 years old |
66 |
1 |
1.5 |
None |
28878254 |
| Breast + Ovary ca. |
Cross-sectional hospital cohort of 68 women with HBOC, referred for genetic testing between 2011 and 2016 at Taipei Veterans General Hospital |
68 |
1 |
1.5 |
None |
28961279 |
| Ovarian ca. |
Patients aged at least 18 years with primary diagnosis or platinum-sensitive relapse of invasive epithelial ovarian cancer in Germany |
525 |
0 |
0.0 |
NGS sequencing |
29053726 |
| Breast ca. |
Consecutive breast cancer patients treated at the Breast Center of Peking University Cancer Hospital from 2003 to 2015 |
8085 |
38 |
0.5 |
None |
28724667 |
| Non-small cell lung cancer |
patients with lung adenocarcinoma eligible for surgery, with no history of chemotherapy, recruited from a referral center of thoracic surgery between 2006 and 2013 |
45 |
4 |
8.9 |
Only the c.1010G>A;p.R337H mutation was found (0.3% frequency in Brazilian population) |
28968711 |
| Breast ca. |
Palestinian women with a diagnosis of invasive breast cancer |
875 |
9 |
1.0 |
None |
28486781 |
| Breast and/or Ovary ca. |
Patients and families from across India with an indication of breast and/or ovarian
cancers |
1010 |
23 |
0.09 |
None |
29470806 |
| Pancreatic ca. |
Patients from the Mayo Clinic Biospecimen Resource for Pancreas Research, diagnosed with pancreatic ductal adenocarcinoma, recruited between 2012 and 2016, with available genomic DNA extracted from peripheral blood lymphocyte |
3030 |
6 |
0.2 |
None |
29922827 |
| Breast ca. Triple negative |
Triple-Negative Breast Cancer cases subjected to clinical germline cancer
panel testing between 2012 and 2016 at Ambry Genetics |
8753 |
14 |
0.16 |
None |
30099541 |
| Family history of various cancer types |
Individuals who underwent testing of a multi-gene panel in a single clinical diagnostic laboratory between 2010 and 2014 |
40885 |
102 |
0.2 |
None |
29529297 |
| Family history of various cancer types |
Individuals who underwent testing of TP53 in a single clinical diagnostic laboratory between 2010 and 2014 |
3201 |
132 |
4.1 |
None |
29529297 |
| Breast + Ovary ca. |
patients with BC < 36 years, bilateral BC < 51 years, affected by BC and OC even in the absence of a family history of BC and OC |
5589 |
47 |
0.9 |
None |
29522266 |
| Breast ca. |
Unselected Japanese men with breast cancer |
53 |
0 |
0.0 |
None |
30287823 |
| Breast ca. |
Unselected Japanese women with breast cancer |
7051 |
16 |
0.2 |
None |
30287823 |
| Breast ca. |
Mexican women diagnosed with primary breast cancer with suspicion of HBOC |
300 |
0 |
0.0 |
None |
30262796 |
| Colorectal ca. |
High-risk CRC families fulfilling the Amsterdam I/II or Bethesda clinical criteria but negative for MMR gene mutations |
98 |
1 |
1.02 |
None |
30256826 |
| Breast ca. |
Women with BC diagnosed before 46 years and without Chompret criteria for LFS or LFL |
239 |
6 |
2.5 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
30596752 |
| Breast ca. |
Women with BC unselected for age of diagnosis and family history |
315 |
1 |
0.3 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
30596752 |
| Breast ca. Triple negative |
TNBC, newly diagnosed or in aftercare, treated in the Department of Gynecology and Obstetrics, University Hospital Erlange, between 01/2012 and 06/2016 |
229 |
0 |
0.0 |
None |
30257646 |
| Breast ca. |
Women with a personal history of breast cancer were referred for germline testing at the University of Virginia from January 2015 to July 2017 |
612 |
4 |
0.65 |
None |
29958926 |
| Ovarian ca. |
Women with a personal history of OC of any histologic subtype, submitted to GeneDx Laboratories (Gaithersburg, MD) between 2013 and 2017 |
4439 |
4 |
0.001 |
None |
30322717 |
| Breast and uterine cancer |
Women with breast and uterine cancer who underwent multi-gene hereditary cancer panel testing at a single commercial laboratory (Ambry Genetics, Aliso Viejo, CA). |
1650 |
4 |
0.24 |
None |
30612783 |
| Breast ca. |
Patients with high hereditary risk BC from 26 hospitals of 14 provinces in China recruited between October 2015 and September 2016 |
937 |
21 |
2.2 |
None |
29752822 |
| Breast ca. |
Male breast cancer cases from the Italian multicenter study on MBC, unselected for age at diagnosis and family history of cancer |
523 |
0 |
0.0 |
None |
30613976 |
| Hereditary breast cancer syndrome |
Patients with suspected hereditary breast cancer syndrome tested at the Clinical Cancer Genetics Service of the National University Cancer Institute between 2001 and 2017 |
460 |
6 |
1.3 |
None |
30875412 |
| Breast ca. |
Women younger than 45 years old and BRCA-negative |
78 |
5 |
6.4 |
None |
30709381 |
| Breast ca. In situ |
Cases of pure DCIS with no invasive disease diagnosed in women aged under 50 |
655 |
3 |
0.45 |
None |
31060593 |
| Ovarian ca. |
Women with high-grade serous ovarian cancer in Serbia |
131 |
0 |
0.0 |
NGS sequencing |
30651582 |
| Breast ca. |
HER2 positive <51 years old |
213 |
3 |
1.4 |
None |
23580068 |