Table 1.
Number tested in carrier families | Number of all carriers (%) | Number of female carriers (%) | Affected females | Mean age of diagnosis of breast cancer | |
Clinical series | 1779 | 1191 | 942 | ||
Single mutation | 1169 | 926 | 48.1 (±13.0) | ||
BRCA1 185delAG | 556 (46.68) | 444 (47.13) | 178 Breast (40.1%) | 46.8 (±12.3) | |
88 Ovary (19.8%) | |||||
BRCA1 5382insC | 181 (15.20) | 151 (16.03) | 72 Breast (47.7%) | 46.8 (±14.0) | |
20 Ovary (13.2%) | |||||
BRCA2 6174delT | 432 (36.27) | 331 (35.14) | 122 Breast (36.9%) | 50.8 (±13.0) | |
22 Ovary (6.6%) | |||||
Double mutation | 22 (1.85) | 16 (1.70) | 8 Breast | 44.6 (±13.5) | |
1 Ovary | |||||
BRCA1 185delAG + BRCA2 6174delT | 18 (1.51) | 14 (1.49) | 6 Breast (42.9%) | 47.0 (±13.5) | |
1 Ovary (7.1%) | |||||
BRCA1 5382insC + BRCA2 6174delT | 4 (0.34) | 2 (0.21) | 2 Breast | 37.5 (±13.5) | |
BRCA1 185delAG + BRCA1 5382insC | 0 | 0 | |||
Breast cancer cohort study | 1794 All | 135 | 135 | 135 | |
1102 AJa | |||||
Non-carriers | 1659 | 1659 | 1659 | 62.1 (±13.5) | |
Single mutation | |||||
BRCA1 185delAG | 61 | 61 | 61 | 56.0 (±15.5) | |
BRCA1 5382insC | 17 | 17 | 17 | 51.5 (±13.6) | |
BRCA2 6174delT | 53 | 53 | 53 | 57.3 (±12.8) | |
Double mutation | |||||
BRCA1 185delAG + BRCA2 6174delT | 4 (0.30) | 4 (0.30) | 4 | 49.3 (±17.0) |
AJ, Ashkenazi Jews.