Table 1 Number of BRCA1 and BRCA2 mutation carriers by study
Study | Country of residence | BRCA1 | BRCA2 | Genotyping platform |
|---|---|---|---|---|
Breast Cancer Family Registry (BCFR) | USA and Australia | 492 | 356 | Taqman |
Copenhagen Breast Cancer Study (CBCS) | Denmark | 92 | 51 | Taqman |
CNIO | Spain and Greecea | 149 | 198 | Taqman |
Deutsches Krebsforschungszentrum (DKFZ) | Germany | 68 | 27 | Taqman |
Hereditary Breast and Ovarian study Netherlands (DNA-HEBON) | The Netherlands | 768 | 293 | iPlexb |
Epidemiological study of BRCA1 and BRCA2 mutation carriers (EMBRACE) | UK and Eire | 801 | 616 | iPlexb |
Fox Chase Cancer Center (FCCC) | USA | 82 | 53 | iPlexb |
German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) | Germany | 799 | 376 | Taqman |
Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO) | France | 1123 | 565 | Taqman |
Gynecologic Oncology group (GOG) | USA | 391 | 275 | Taqman |
Georgetown (GTN) | USA | 29 | 17 | iPlexb |
Hospital Clínico San Carlos (HCSC) | Spain | 109 | 94 | Taqman |
Helsinki Breast Cancer Study (HEBCS) | Finland | 102 | 104 | iPlexb |
Iceland Landspitali – University Hospital (ILUH) | Iceland | 86 | Sequencing | |
Interdisciplinary Health Research International Team Breast Cancer Susceptibility (INHERIT BRCAs) | Quebec-Canada | 73 | 82 | Taqman |
Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) | Australia | 488 | 388 | iPlexb |
Mayo Clinic (MAYO) | USA | 214 | 118 | iPlexb |
Milan Breast Cancer Study Group (MBCSG) | Italy | 344 | 218 | Taqman |
Modifier Study of Quantitative Effects on Disease (ModSQuaD) | Czech Republic | 271 | 128 | Taqman |
Memorial Sloan-Kettering Cancer Center (MSKCC) | USA | 255 | 157 | Taqman |
Medical University of Vienna (MUV) | Austria | 281 | 120 | iPlexb |
National Cancer Institute (NCI) | USA | 156 | 73 | Taqman |
National Israeli Cancer Control Centre (NICCC) | Israel | 309 | 196 | Taqman |
N.N. Petrov Institute of Oncology (NNPIO) | Russia | 66 | 0 | Taqman |
Ontario Cancer Genetics Network (OCGN) | Canada | 219 | 170 | Taqman |
The Ohio State University Clinical Cancer Genetics Program (OSU CCG) | USA | 60 | 31 | Taqman |
Odense University Hospital (OUH) | Denmark | 217 | 131 | Taqman |
Istituto Oncologico Veneto (IOVHBOCS) | Italy | 93 | 88 | Taqman |
Pisa Breast Cancer Study (PBCS) | Italy | 72 | 40 | iPlexb |
Sheba Medical Centre (SMC)-Tel Hashomer | Israel | 400 | 190 | Taqman |
Swedish Breast Cancer Study (SWE-BRCA) | Sweden | 411 | 120 | iPlexb |
University of Turín Breast Cancer Study (UTBCS) | Italy | 61 | 43 | Taqman |
University of California Irvine (UCI) | USA | 166 | 120 | Taqman |
University of Pennsylvania (UPENN) | USA | 247 | 108 | iPlexb |
Total | 9408 | 5632 |
