Table 2.
Mutations in breast cancer risk genes and number of positive diagnostic criteria for gene testing
| Mutated gene | Number of diagnostic criteria | ||||
|---|---|---|---|---|---|
| 0 | 1 | 2 | 3 | Total | |
| BRCA1 | 3 | 18 | 11 | 2 | 34 |
| BRCA2 | 2 | 7 | 3 | 1 | 13 |
| CHEK2 | 1 | 1 | 0 | 0 | 2 |
| NBN | 0 | 1 | 0 | 0 | 1 |
| RAD51C | 0 | 2 | 1 | 0 | 3 |
| RAD51D | 1 | 0 | 0 | 0 | 1 |
| PALB2 | 2 | 0 | 0 | 0 | 2 |
| ATM | 1 | 0 | 0 | 0 | 2 |
| Overall | 10 | 29 | 15 | 3 | 57 |
Each column delineates the number (0–3) of fulfilled diagnostic criteria for gene testing (0–3) for each of the risk-genes. One point was given each for diagnosis before age 35 years, for bi- or contralateral breast cancer/ ovarian cancer and for family history. Ten women out of 57 (17.5%) did not fulfill any of these criteria and would thus otherwise go untested