Exon no | Familial mutation | No of individuals (%) withBRCA2* mutations (nā=ā25) |
11 | 6714_6717delACAA | 2 (11.8) |
6503delTT | 1 (5.9) | |
6174delT | 1 (5.9) | |
6137C>A (S1970X) | 2 (11.8) | |
5950delCT | 2 (11.8) | |
5368delATTT* | 1 (5.9) | |
5056insG* | 3 (17.6) | |
4859insA | 2 (11.8) | |
4329insA* | 1 (5.9) | |
4329delA* | 1 (5.9) | |
3386T>G (L1053X) | 1 (5.9) | |
3036delACAA | 1 (5.9) | |
Total | 18 | |
2 | 295G>T | 4 (100) |
Total | 4 | |
23 | 9138insA* | 1 |
Total | 1 | |
8 | 860ā1G>A* | 2 (100) |
Total | 2 |
*Novel mutations not reported in Breast Cancer Information Core database.