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 |