Table 2.
BRCA mutations detected among 188 Ovarian/Breast Cancer Patients.
| Mutation | Ovarian cancer (n=92) | Breast cancer (n=96) | Total (n=188) | |
|---|---|---|---|---|
| BRCA1 (85%) | ex9-12del | 9 (35%) | 4 (29%) | 13 (33%) |
| IVS5+1G>A | 2 | 0 | 2 | |
| 3977del4* | 0 | 1 | 1 | |
| R1699W* | 1 | 0 | 1 | |
| 803delA* | 1 | 0 | 1 | |
| 70insAG* | 1 | 0 | 1 | |
| A1708E | 1 | 1 | 2 | |
| 4184del4 | 1 | 0 | 1 | |
| R71G | 1 | 0 | 1 | |
| 917delTT | 0 | 1 | 1 | |
| 943ins10 | 1 | 0 | 1 | |
| 2925del4 | 0 | 1 | 1 | |
| 3878delTA | 0 | 1 | 1 | |
| 185delAG | 0 | 1 | 1 | |
| R1443X | 0 | 1 | 1 | |
| BRCA1 Large Rearrangements (BRCA1)** | ex8-9dup | 2 | 0 | 2 |
| ex18-19del | 2 | 0 | 2 | |
| ex8-10del | 1 | 0 | 1 | |
| BRCA2 (15%) | 9463delG | 1 | 0 | 1 |
| 6244delG* | 1 | 0 | 1 | |
| 2900delCT* | 1 | 0 | 1 | |
| 6714del4* | 0 | 1 | 1 | |
| 1803insA* | 0 | 1 | 1 | |
| 6252insG | 0 | 1 | 1 | |
| Total | 26 (28%) | 14 (15%) | 40 (21%) |
*
Mutations detected by pyrosequencing;
**
detected by MLPA