Table 3. Prevalence of germline mutations in genes tested in patients with triple-negative breast cancer and hereditary non-triple-negative breast cancer.
| Gene | Triple-negative n = 158 | % | Hereditary non-triple-negative n = 44 | % |
|---|---|---|---|---|
| BRCA1 | 27 | 17.2 | 1 | 2.3 |
| CHEK2 | 2 | 1.3 | 5 | 11.3 |
| NBN | 3 | 1.9 | 1 | 2.3 |
| PALB2 | 0 | 0 | 1 | 2.3 |
| ATM | 1 | 0.6 | 0 | 0 |
| BRCA1/CHEK2 1 | 1 | 0.6 | 0 | 0 |
| BRCA1/NBN 2 | 1 | 0.6 | 0 | 0 |
| CHEK2/NBN 3 | 0 | 0 | 2 | 4.5 |
| All | 35 | 22.2 | 10 | 22.7 |
Four patients carried two different mutations:
1 BRCA1-c.3700_3704delGTAAA/CHEK2-c.470T>C;
2 BRCA1-c.3700_3704delGTAAA/NBN-c.511A>G;
3 CHEK2-c.444+1G>A/NBN-c.511A>G and CHEK2-c.470T>C/NBN-c.657_661delACAAA.