Table 1. Characteristics of study subjects by site.
| Source* | Ascertainment |
BRCA1 Cases |
BRCA1 unaff. |
Total BRCA1 |
BRCA2 Cases |
BRCA2 unaff. |
Total BRCA2 |
B1/2† Cases |
B1/2† unaff. |
Total B1/2† |
Total Carriers |
|---|---|---|---|---|---|---|---|---|---|---|---|
| MAGIC | Clinic | 303 | 428 | 731 | 137 | 160 | 297 | 3 | 0 | 3 | 1031 |
| GEMO | Clinic | 413 | 276 | 689 | 223 | 84 | 307 | 0 | 0 | 0 | 996 |
| EMBRACE | Clinic | 235 | 219 | 454 | 156 | 148 | 304 | 1 | 2 | 3 | 761 |
| Poland | Clinic | 307 | 427 | 734 | 0 | 0 | 0 | 0 | 0 | 0 | 734 |
| kConFab | Clinic | 203 | 201 | 404 | 169 | 143 | 312 | 0 | 0 | 0 | 716 |
| GCHBOC | Clinic | 286 | 113 | 399 | 173 | 52 | 225 | 3 | 0 | 3 | 627 |
| MSKCC | Clinic | 174 | 117 | 291 | 102 | 70 | 172 | 1 | 0 | 1 | 464 |
| Ontario | Clinic and Population | 125 | 52 | 177 | 100 | 41 | 141 | 0 | 0 | 0 | 318 |
| LUMC | Clinic | 99 | 120 | 219 | 12 | 20 | 32 | 0 | 0 | 0 | 251 |
| Lund | Clinic | 73 | 88 | 161 | 38 | 32 | 70 | 0 | 0 | 0 | 231 |
| MOD-SQUAD | Clinic | 82 | 67 | 149 | 28 | 15 | 43 | 0 | 0 | 0 | 192 |
| HEBCS | Clinic | 56 | 39 | 95 | 54 | 40 | 94 | 0 | 0 | 0 | 189 |
| DKFZ | Clinic | 82 | 41 | 123 | 30 | 21 | 51 | 0 | 0 | 0 | 174 |
| MAYO | Clinic | 53 | 23 | 76 | 26 | 20 | 46 | 0 | 0 | 0 | 122 |
| INHERIT | Clinic | 33 | 37 | 70 | 40 | 41 | 81 | 0 | 0 | 0 | 151 |
| NCI | Clinic | 47 | 116 | 163 | 17 | 50 | 67 | 0 | 0 | 0 | 230 |
| Total | 2571 | 2364 | 4935 | 1305 | 937 | 2242 | 8 | 2 | 10 | 7187 |
Abbreviations: MAGIC: Modifiers and Genetics in Cancer; GEMO: Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers study; GCHBOC: German Consortium for Hereditary Breast and Ovarian Cancer; EMBRACE: Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers; kConFab: Kathleen Cunningham Consortium for Research into Familial Breast Cancer; INHERIT BRCAs: Interdisciplinary Health Research International Team on Breast Cancer susceptibility. MSKCC: Memorial Sloan Kettering Cancer Center; MAYO: Mayo Clinic; LUMC: Leiden University Medical Center; MOD-SQUAD: Modifier Study of Quantitative Effects on Disease; HEBCS: Helsinki Breast Cancer Study; DKFZ: Deutsches Krebsforschungszentrum Heidelberg; NCI: National Cancer Institute. The term unaff. refers to individuals not affected with breast cancer.
B1/2 refers to individuals with both BRCA1 and BRCA2 deleterious mutations.