Table 1.
Characteristics of mutation carriers (n = 11)
| Mutation (HGVS) | Age at diagnosis (years) | St. Gallen subtype | TNM stage (AJCC 7th Edition) |
|---|---|---|---|
| BRCA2 c.9580_9581delCC | 70 | LumB HER2- | T1N0M0 |
| BRCA2 c.8575_8575delC | 49 | LumB HER2- | T1N1miM0 |
| BRCA1 c.1687C > T | 46 | Basal | cT2N0M0; ypTisN0b |
| BRCA2 c.5946_5946delT | 68 | LumB HER2- | T1N0M0 |
| BRCA2 c.6267_6269delGCAinsC | 63a | LumB HER2- | cT2N1M0; ypT0N0b |
| BRCA2 c.8953 + 1G > T | 65 | LumB HER2- | T1N0M0 |
| BRCA2 c.4258_4258delG | 47a | LumB HER2- | T1N2M0 |
| BRCA2 c.4258_4258delG | 72 | LumB HER2- | T1N0M0 |
| BRCA1 c.1687C > T | 57a | LumB HER2- | T1N0M0 |
| BRCA2 c.4258_4258delG | 68a | LumB HER2- | cT2N1M0; ypT0N0b |
| BRCA2 c.5219_5219delT | 40 | LumB HER2+ | T1N0M0 |
aPrevious diagnosis of breast cancer in the contralateral breast; age refers to age at diagnosis of the second primary breast cancer
bNeoadjuvant chemotherapy