Table 5.
BRCA1 mutations (according to the HGVS) and their links to OC in the analyzed group.
| HGVS | Cases | Percentage | Mutation Type | |
|---|---|---|---|---|
| 1 | c.(80+1_81-1)_(441+1_442-1)del | 1 | 2% | VUS |
| 2 | c.1066C>T | 1 | 2% | Nonsense |
| 3 | c.135-2A>G | 2 | 5% | Frameshift–splice acceptor |
| 4 | c.1687C>T | 4 | 9% | Nonsense |
| 5 | c.1789G>T | 1 | 2% | Nonsense |
| 6 | c.181T>G | 4 | 9% | Missense |
| 7 | c.2411_2412delAG | 1 | 2% | Frameshift deletion |
| 8 | c.3607C>T | 11 | 26% | Nonsense |
| 9 | c.3700_3704delGTAAA (c.3695_3699GTAAA) |
1 | 2% | Frameshift microsatellite |
| 10 | c.4065_4068delTCAA | 1 | 2% | Frameshift deletion |
| 11 | c.4675+1G>C | 1 | 2% | Frameshift–splice donor |
| 12 | c.4986+3G>C | 1 | 2% | Single nucleotide variant |
| 13 | c.5266dupC (5382insC) | 8 | 19% | Frameshift duplication |
| 14 | c.5497G>A | 1 | 2% | Missense |
| 15 | c.5558A>G | 1 | 2% | Missense |
| 16 | c.556T>G | 1 | 2% | Missense |
| 17 | c.843_846delCTCA | 3 | 7% | Frameshift deletion |
| Total | 43 | 100% |