Ages at diagnosis and numbers of breast and ovarian cancers occurring in the families with BRCA1 4184del4
| 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). | ||||||
| 9 | BRCA1 | 3 (39*, 52, 56) | 1 (44) | 0 | 2 (56, 52) | 0 |
| 10 | BRCA1 | 3 (36*, 47*, 48) | 1 (59*) | 0 | 3 (36,45,47) | 0 |
| 11 | BRCA1 | 1 (39/41*) | 1 (48*) | 0 | 0 | 1 (85) |
| 12 | BRCA1 | 3 (29*, 42, 45) | 0 | 0 | 2 54, 32) | 0 |
| 13 | BRCA1 | 3 (29*, 43*, 34) | 1 (46) | 2 (39§, 45) | 2 (80,56) | 3 (56,56, 43) |
| 14 | BRCA1 | 5 (35*, 48*, 58, 49†, 60) | 0 | 0 | 1 (55) | 0 |
| 15 | BRCA1 | 3 (30*, 69*, 43*) | 1 (49*) | 2 (48, 33) | 2 (35, 37) | 3 (43, 45, 48) |
| 16 | BRCA1 | 1 (32*) | 2 (30*, 43*) | 1 (41) | 3 (32, 47, 30) | 1 (38) |
| 17 | BRCA1 | 1 (39*‡) | 4 (57*, 48*, 39*‡, 30*) | 0 | 3 (68, 35, 33) | 1 (71) |
| 18 | BRCA1 | 1 (51) | 2 (52*, 54*) | 0 | 0 | 3 (76, 73, 40) |
| 20 | BRCA1 | 4 (33*, 50, 49, 50) | 1 (50) | 0 | 1 (45) | 0 |
| 21 | BRCA1 | 0 | 3 (49*, 64, 64) | 0 | 0 | |
| 22 | BRCA1 | 1 (48/50*‡) | 1 (56*‡) | 0 | 0 | 0 |
| Total | 16*+12 untested = 28 Mean age 41 years; 1† | 13*+5 = 18 Mean age 49.1 years | 5 (Mean 41 years 1§ | 20 (Mean 47.1 years) | 12 (Mean 57 years) | |