| Choroid plexus tumor |
Pediatric tumors |
5 |
0 |
0.0 |
None |
22653678 |
| 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 |
| 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 |
| Osteosarcoma |
Unselected osteosarcoma cases >=30 years old |
51 |
0 |
0.0 |
None |
25896519 |
| Ovarian ca. |
ovarian, fallopian tube, or peritoneal carcinoma at age 40 years or younger |
47 |
0 |
0.0 |
None |
26718727 |
| 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. |
Mexican women diagnosed with primary breast cancer with suspicion of HBOC |
300 |
0 |
0.0 |
None |
30262796 |
| 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 |
| 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. |
Unselected Japanese men with breast cancer |
53 |
0 |
0.0 |
None |
30287823 |
| Breast ca. |
Women <30 yo, irrespective of family history |
52 |
2 |
3.8 |
None |
20501846 |
| Endometrial serous carcinoma |
Unselected |
151 |
2 |
1.3 |
None |
22811390 |
| 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. |
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 |
| 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. |
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 |
| Breast ca. |
BRCA1 and BRCA2 mutation-negative breast and/or ovarian cancer families of French Canadian descent |
52 |
2 |
3.8 |
None |
17541742 |
| 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. & Cutaneous melanoma |
Female and male with BC&melanoma or Melanoma&BC |
82 |
2 |
2.4 |
None |
17624602 |
| 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 |
| Breast ca. |
Invasive breast cancer cases diagnosed and treated from 2010 to 2015 at Sarawak
General Hospital |
464 |
2 |
0.5 |
None |
28664506 |
| Rhabdomyosarcoma |
Sporadic cases |
33 |
3 |
9.0 |
None |
7706467 |
| Rhabdomyosarcoma |
Sporadic cases < 4 years old |
13 |
3 |
23.0 |
None |
7706467 |
| 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. |
Women between 30-39 and with two or more 1st or 2nd relatives with BC or OC |
42 |
3 |
7.1 |
None |
20501846 |
| Breast ca. |
HER2 positive <51 years old |
213 |
3 |
1.4 |
None |
23580068 |
| Adrenocortical ca. |
chidren (<=18 years) with ADC |
6 |
3 |
50.0 |
None |
7966399 |
| 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 |
| Breast ca. In situ |
Cases of pure DCIS with no invasive disease diagnosed in women aged under 50 |
655 |
3 |
0.45 |
None |
31060593 |
| LFL-B |
LFL-B |
18 |
4 |
22.2 |
None |
9242456 |
| Breast ca. |
BRCA negative <37 years old |
83 |
4 |
4.8 |
None |
22507745 |
| Adrenocortical ca. |
Unselected cases |
53 |
4 |
7.5 |
None |
23175693 |
| Adrenocortical ca. |
Adult onset |
103 |
4 |
3.9 |
None |
22170717 |
| 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. |
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 |
| Breast ca. |
Women < 35 years, BRCA1/2 negative |
83 |
5 |
6.0 |
None |
22507745 |
| Breast ca. |
Unrelated women < 36 years old with NO family history and negative for BRCA1/2 mutation |
128 |
5 |
4.0 |
None |
19652052 |
| 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 |
| 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. |
Women younger than 45 years old and BRCA-negative |
78 |
5 |
6.4 |
None |
30709381 |
| 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. |
BRCA negative <30 years old |
28 |
6 |
21.4 |
None |
22851211 |
| Colorectal ca. |
Population-based and clinic-based CRC <= 40 years lacking a known hereditary cancer syndrome |
457 |
6 |
1.3 |
None |
26086041 |
| 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 |
| 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 |
| 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 |
| Osteosarcoma |
Cases < 20 years old |
71 |
7 |
9.8 |
None |
12610779 |
| Breast + Ovary ca. |
Patients analyzed in the context of a genetic session and fulfilling criteria for HBOC |
708 |
7 |
0.98 |
None |
24549055 |
| Adrenocortical ca. |
Adult cases |
49 |
7 |
14.3 |
None |
29070607 |
| LFS |
LFS |
15 |
8 |
53.3 |
None |
9569035 |
| LFS |
LFS |
11 |
8 |
73.0 |
None |
20522432 |
| Choroid plexus ca. |
Choroid plexus carcinomas |
18 |
8 |
44.4 |
None |
20308654 |
| STS |
Cases < 16 years old |
107 |
9 |
8.4 |
None |
12610779 |
| Brain medulloblastoma |
Childhood (4-17 years) SHH-MB cases |
30 |
9 |
30.0 |
None |
24651015 |
| Breast ca. |
Palestinian women with a diagnosis of invasive breast cancer |
875 |
9 |
1.0 |
None |
28486781 |
| Breast ca. |
HER2 positive BC in women younger than 40 years old |
304 |
9 |
2.9 |
None |
26681682 |
| LFL-B |
LFL-B |
36 |
10 |
28.0 |
None |
20522432 |
| Advanced cancer |
Patients with metastatic or inoperable locally advanced or recurrent cancer |
1000 |
10 |
10.0 |
None |
26787237 |
| Breast ca. |
Unrelated women < 36 years old with family history and negative for BRCA1/2 mutation |
161 |
12 |
7.4 |
None |
19652052 |
| Adrenocortical ca. |
Chidren <15 years with ADC and without significant family history |
14 |
12 |
86.0 |
None |
10486318 |
| 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 |
| LFS |
LFS |
21 |
15 |
71.5 |
None |
9242456 |
| Breast ca. |
Unselected Japanese women with breast cancer |
7051 |
16 |
0.2 |
None |
30287823 |
| Sarcoma |
Adult onset |
556 |
17 |
3.0 |
None |
23894400 |
| Choroid plexus ca. |
Children plus one adult |
47 |
17 |
39.5 |
None |
29070607 |
| 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 |
| Chompret revised |
Chompret revised |
105 |
22 |
21.0 |
None |
20522432 |
| 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 |
| Breast ca. |
included in TP53 genetic testing because of relevant personal and/or family history |
109 |
30 |
28.0 |
None |
21761402 |
| 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 |
| Adrenocortical ca. |
Chidren (<=20 years) with ADC |
68 |
34 |
50.0 |
None |
25584008 |
| 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 |
| Osteosarcoma |
Unselected osteosarcoma cases <30 years old |
505 |
48 |
9.5 |
None |
25896519 |
| 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 |
| Pediatric cancers |
Cancer patients younger than 20 years of age |
1120 |
54 |
4.8 |
None |
26580448 |
| Brain glioma |
Familial glioma |
101 |
1 |
1.0 |
None |
20455025 |
| Adrenocortical ca. |
Pediatric tumors |
3 |
1 |
33.3 |
None |
22653678 |
| Rhabdomyosarcoma |
Pediatric tumors |
18 |
1 |
50.5 |
None |
22653678 |
| 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 |
| Breast ca. |
Women < 30 years old with no cancer in first- or second-degree relatives |
14 |
1 |
7.1 |
None |
19204208 |
| Breast ca. |
Cases < 35 years old |
43 |
1 |
2.3 |
None |
23469205 |
| Breast ca. |
African-american with BC<45 or history of BC or OV ca. |
289 |
1 |
0.35 |
None |
25428789 |
| Pancreatic ca. |
Cohort of pancreatic cancer |
290 |
1 |
0.3 |
None |
25479140 |
| Ovarian ca. |
TCGA exome sequenced cases |
429 |
1 |
0.002 |
None |
24448499 |
| Sarcoma |
Cases < 50 years old |
66 |
1 |
1.5 |
None |
28878254 |
| 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. |
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 |
| AML |
de novo Acute Myeloid leukemia |
72 |
1 |
1.4 |
None |
27621308 |
| 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 |
| 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 |
| 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 |
| Adrenocortical ca. |
Children cases |
97 |
45 |
46.4 |
None |
29070607 |
| 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 |
| LFS Chompret |
French families suggestive of LFS, including 232 families fulfilling Chompret criteria |
474 |
82 |
17.3 |
None |
18511570 |
| 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 |
| 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 |
| 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 |
| 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 |
| Ovarian ca. |
Women with high-grade serous ovarian cancer in Serbia |
131 |
0 |
0.0 |
NGS sequencing |
30651582 |
| Breast + Ovary ca. |
BRCA negative HBOC |
64 |
0 |
0.0 |
only exons 5-8 analyzed |
21203900 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Osteosarcoma |
Pediatric tumors |
41 |
3 |
7.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21192060 |
| 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 |
| Neuroblastoma |
Pediatric cases |
83 |
7 |
8.4 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
26452166 |
| Breast phyllodes tumors. |
Unselected |
148 |
8 |
5.4 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
23794094 |
| Choroid plexus ca. |
Pediatric tumors |
13 |
9 |
69.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21192060 |
| Pediatric cancers |
Children with cancers |
292 |
11 |
3.7 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
24122735 |
| 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. |
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 |
| Adrenocortical ca. |
Pediatric tumors |
70 |
65 |
93.0 |
Only c.1010G>A;p.R337H mutation analyzed (0.3% frequency in Brazilian population) |
21192060 |
| 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 |
| 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 |
| 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 |