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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%) | |
