Table 3.
Frequency of mutations and of unclassified variants of the BRCA2 gene in 200 families with evidence of strong genetic predisposition to breast or breast and ovarian cancer
| Mutation | Exon | Families with organ-specific breast cancer | Families with breast and ovarian cancer | Total |
|---|---|---|---|---|
| 488delCT | 3 | - | 1 | 1 |
| 3427delA | 11 | 1 | - | 1 |
| 5467insT | 11 | 1 | - | 1 |
| 7235G/A | 13 | 1 | - | 1 |
| 8138del5 | 17 | 1 | - | 1 |
| 9068delA | 22 | 1 | - | 1 |
| 9630delC | 25 | 1 | - | 1 |
| Total | 6 (6%) | 1 (1%)7 | (3.5%) | |
| Sequence variants | Exon | Families with organ-specific breast cancer | Families with breast and ovarian cancer | Total |
| 1093A/C | 10 | 1 | 2 | 3 |
| 2578A/G | 11 | - | 1 | 1 |
| 4486G/T | 11 | 1 | 2 | 3 |
| 5972C/T | 11 | 2 | 1 | 3 |
| 9079G/A | 22 | 1 | - | 1 |