Specific BRCA1/2 gene mutations in the 14 participating families
| Family | Mutated gene | Specific mutation |
|---|---|---|
| 1 | BRCA1 | 5382insC |
| 2 | BRCA2 | 6672delTATT |
| 3 | BRCA2 | 6498delTA |
| 4 | BRCA2 | 6503delTT |
| 5 | BRCA1 | 3668AG→T |
| 6 | BRCA1 | IVS22+5G→A |
| 7 | BRCA1 | 3780G→T |
| 8 | BRCA2 | 384insAlu |
| 9 | BRCA1 | IVS5+3A→G |
| 10 | BRCA1 | 5382insC |
| 11 | BRCA2 | 5163delA |
| 12 | BRCA1 | 2312del5 |
| 13 | BRCA2 | 1898T→G |
| 14 | BRCA2 | 6503delTT |