Table 5
Ages of onset and numbers of breast and ovarian cancers occurring in the families with BRCA2 2157delG
| Family | Gene | Breast cancers (years) | Ovarian cancers (years) | Unaffected carriers | Unaffected women at 50% risk >30 years | Women at 50% risk mutation negative |
|---|---|---|---|---|---|---|
| *Tested mutation carrier or obligate carrier by testing of other family members; †phenocopy; 48/50, bilateral breast cancer aged 48 and 50 years; ‡breast/ovary double primary; §obligate or presumed unaffected mutation carrier (intervening unaffected individual). M, male breast cancer | ||||||
| 1 | BRCA2 | 5 (28,44, 56, 72, 35) | 1 (47*) | 70§ | 10 (60, 65, 56, 53, 48, 45, 52, 44, 42, 40) | 0 |
| 2 | BRCA2 | 29* | 1 (48*) | 50 | 0 | 0 |
| 3 | BRCA2 | 4 (39, 49, 65, 55) M65* | 0 | 0 | 3 (76, 52, 60) | 1 (52) |
| 4 | BRCA2 | 2 (32*, 44) | 0 | 64§ | 0 | 0 |
| 5 | BRCA2 | 4 (33*, 40*, 32, 32†) | 0 | 1 (35) | 1 (40) | 0 |
| 6 | BRCA2 | 4 (58*, 42*, 40, 44) | 0 | 0 | 2 (44, 33) | 3 (41, 44, 73) |
| 7 | BRCA2 | 3 (32*, 43, 49) | 0 | 0 | 1 (35) | 0 |
| 8 | BRCA2 | 4 (38*, 56†, 68, 54) | 1 (52*) | 0 | 80 | 0 |
| 19 | BRCA2 | 4 (56/56*, 41, 32*, 32*) M68 | 0 | 1 (40) | 4 (55, 48, 37, 60) | 4 (54, 65, 58, 57) |
| Total | 11*+18 untested = 29+2† +2M; Mean age 43.1 years | 3* (Mean age 49 years) | 5 (Mean age 52 years) 3+2§ | 22 (Mean age 50.9 years) | 8 (Mean age 55.5 years) | |
