Table 1.
Study | Countrya | BRCA1, N | BRCA2, N | Genotyping platform |
---|---|---|---|---|
Medical University of Vienna (MUV) | Austria | 277 | 116 | iPLEXb |
Breast Cancer Family Registry (BCFR) | USA, Canada, Australia | 490 | 356 | Taqman |
Copenhagen Breast Cancer Study (CBCS) | Denmark | 91 | 51 | Taqman |
Spanish National Cancer Centre (CNIO) | Spain, Greece | 167 | 197 | Taqman |
Deutsches Krebsforschungszentrum (DKFZ) | Germany | 68 | 27 | Taqman |
Hereditary Breast and Ovarian study Netherlands (HEBON) | The Netherlands | 768 | 291 | iPLEXb |
Epidemiological study of BRCA1 & BRCA2 mutation carriers (EMBRACE) |
UK and Eire | 807 | 632 | iPLEXb |
Fox Chase Cancer Centre (FCCC) | USA | 80 | 54 | iPLEXb |
German Consortium of Hereditary Breast and Ovarian Cancer (GC-HBOC) |
Germany | 798 | 375 | Taqman |
Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO) |
France, USA | 1116 | 561 | Taqman |
Georgetown University | USA | 31 | 16 | iPLEXb |
Gynecologic Oncology Group (GOG) | USA | 395 | 279 | Taqman |
Hospital Clinico San Carlos (HCSC) | Spain | 109 | 95 | Taqman |
Helsinki Breast Cancer Study (HEBCS) | Finland | 102 | 104 | iPLEXb |
International Hereditary Cancer Centre (IHCC) | Poland | 695 | 0 | RFLP |
Iceland Landspitali—University Hospital (ILUH) | Iceland | 0 | 87 | Sequencing |
Interdisciplinary Health Research International Team Breast Cancer Susceptibility (INHERITBRCAs) |
Quebec, Canada | 73 | 82 | Taqman |
kConFab | Australia | 488 | 388 | iPLEXb |
University of California Irvine (UCI) | USA | 167 | 121 | Taqman |
Mayo Clinic (MAYO) | USA | 213 | 117 | iPLEXb |
Milan Breast Cancer Study Group (MBCSG) | Italy | 344 | 217 | Taqman |
Memorial Sloane Kettering Cancer Center (MSKCC) | USA | 253 | 155 | Taqman |
National Cancer Institute (NCI) | USA | 147 | 65 | Taqman |
National Israeli Cancer Control Center (NICCC) | Israel | 312 | 199 | Taqman |
Ontario Cancer Genetics Network (OCGN) | Canada | 214 | 169 | Taqman |
Ohio State University Clinical Cancer Center (OSU CCG) | USA | 59 | 31 | Taqman |
Odense University Hospital (OUH) | Denmark | 215 | 131 | Taqman |
Pisa Breast Cancer Study (PBCS) | Italy | 73 | 40 | iPLEXb |
Sheba Medical Centre (SMC)—Tel Hashomer | Israel | 395 | 185 | Taqman |
Swedish Breast Cancer Study (SWE-BRCA) | Sweden | 410 | 121 | iPLEXb |
N.N. Petrov Institute of Oncology (NNPIO) | Russia | 67 | 0 | Taqman |
Modifier Study of Quantitative Effects on Disease (ModSQuaD) | Czech Republic, Belgium | 269 | 130 | Taqman |
University of Turin Breast Cancer Study (UTBCS) | Italy | 60 | 43 | Taqman |
University of Pennsylvania (UPENN) | USA | 245 | 109 | iPLEXb |
Total | 9998 | 5544 |
Country of the clinic at which carriers are recruited
Indicates centralized genotyping (Queensland Institute of Medical Research)