Table 2 Frequency of BRCA1 mutations in 200 families with evidence of strong genetic predisposition to breast and ovarian cancer
Mutation | Exon | Families with organ-specific breast cancer | Families with breast and ovarian cancer | Total |
|---|---|---|---|---|
5382insC | 20 | 36 | 32 | 68 (34.0%) |
C61G | 5 | 16 | 15 | 31 (15.5%) |
4152delA | 11 | 3 | 9 | 12 (6.0%) |
5370C/T | 20 | 3 | - | 3 (1.5%) |
3819del5 | 11 | 1 | 2 | 3 (1.5%) |
794delT | 11 | - | 2 | 2 (1.0%) |
185delAG | 2 | - | 1 | 1 (0.5%) |
2985del5 | 11 | - | 1 | 1 (0.5%) |
5149del4 | 17 | 1 | - | 1 (0.5%) |
total | 60 (60%) | 62 (62%) | 122 (61.0%) |