Table 1.
Characteristics of Individual Female BRCA1/2 Mutation Carriers (including index patients) and Their Untested First-Degree Female Relatives
| Characteristics |
BRCA1 |
BRCA2 |
||
|---|---|---|---|---|
| Carriers (n = 395) | FDRs (n = 349) | Carriers (n = 232) | FDRs (n = 176) | |
| Genetic test | ||||
| Age of index patient at testing, years, mean (SD) | 48.7 (9.8) | NA | 50.6 (10.5) | NA |
| Age at index carriers' test, years, mean (SD) | 47.1 (19.3) | 63.1 (29.7) | 48.7 (17.9) | 64.2 (27.3) |
| Breast cancer in index patients | ||||
| No. (%) | 78 (80.4) | NA | 56 (90.3) | NA |
| Age, years, mean (SD) | 40.1 (9.0) | NA | 44.9 (9.3) | NA |
| Breast cancer | ||||
| No. (%) | 182 (46.1) | 59 (16.9) | 105 (45.3) | 43 (24.4) |
| Age, years, mean (SD) | 42.5 (9.8) | 45.7 (13.0) | 46.7 (10.3) | 51.1 (12.0) |
| Ovarian cancer in index patients | ||||
| No. (%) | 34 (35.1) | NA | 14 (22.6) | NA |
| Age, years, mean (SD) | 48.4 (7.6) | NA | 54.5 (12.1) | NA |
| Ovarian cancer | ||||
| No. (%) | 89 (22.5) | 41 (11.7) | 25 (10.8) | 11 (6.3) |
| Age, years, mean (SD) | 51.0 (10.1) | 51.4 (10.1) | 55.7 (11.9) | 62.9 (11.8) |
| RRM | ||||
| No. (%) | 84 (21.3) | 1 (0.3) | 48 (20.7) | 0 (0) |
| Age, years, mean (SD) | 41.5 (9.9) | 36.5 (NA) | 43.1 (8.0) | NA |
| RRSO | ||||
| No. (%) | 155 (39.2) | 3 (0.9) | 100 (43.1) | 1 (0.6) |
| Age, mean (SD) | 45.6 (9.0) | 45.8 (17.7) | 47.9 (9.4) | 41.5 (NA) |
Abbreviations: FDR, first-degree relative; NA, not applicable; RRM, risk-reducing mastectomy; RRSO, risk-reducing salpingo-oophorectomy.