Table 1. Distribution of germline or somatic BRCA1/2 variants in 507 breast cancer patients.
| Gene | Pathogenic/Likely pathogenic (P/LP) variant | Variant of uncertain significance (VUS) b | ||
|---|---|---|---|---|
| Patient No. | Percentage a | Patient No. | Percentage a | |
| Germline | ||||
| BRCA1 | 18 | 3.6% | 16 | 3.2% |
| BRCA2 | 22 | 4.3% | 43 | 8.5% |
| BRCA1 and BRCA2 concurrent | 0 | 0.0% | 3 | 0.6% |
| Subtotal | 40 | 7.9% | 62 | 12.2% |
| Somatic | ||||
| BRCA1 | 3 | 0.6% | 3 | 0.6% |
| BRCA2 | 6 | 1.2% | 5 | 1.0% |
| Subtotal | 9 | 1.8% | 8 | 1.6% |
| Germline and somatic concurrent | ||||
| BRCA1 | 0 | 0.0% | 0 | 0.0% |
| BRCA2 | 1 | 0.2% | 0 | 0.0% |
| BRCA1 and BRCA2 concurrent | 0 | 0.0% | 1 | 0.2% |
| Subtotal | 1 | 0.2% | 1 | 0.2% |
| Total | 50 | 9.9% | 71 | 14.0% |
a The percentage of carriers out of 507 breast cancer patients.
b One BRCA2 VUS was not listed in this table due to its unknown germline/somatic status.