Table 2.
Mutation distributions among cohorts.
| High-Risk Breast Cancer Patient (HR) | Unselected Cancer Cohort (CC) | Patient with Benign Breast Disease (NC) | ||
|---|---|---|---|---|
| High-Risk Breast Cancer Patient (Met NCCN 2022 v2 Criteria) |
Non High-Risk Breast Cancer Patient (Not Met NCCN 2022 v2 Criteria) |
Not in NCCN 2022 v2 Criteria Based on FH |
||
| n | 3935 | 90 | 217 | 99 |
| Identified P/LP | 463 ^ | 10 | 10 * | 8 |
| Overall mutation (%) | 11.9% (469/3935) |
6.5% (20/307) | 8.1% | |
| 11.1% | 4.6% | |||
| High penetrance (%) | 10.6% (417/3935) |
3.3% (10/307) | 0% | |
| 6.7% (6/90) | 1.8% (4/217) | |||
| BRCA1 | 3.6% | 2.2% | 1.4% | 0% |
| BRCA2 | 5.0% | 3.3% | 0.5% | 0% |
| CDH1 | 0% | 0% | 0% | 0% |
| PALB2 | 1.2% | 0% | 0% | 0% |
| PTEN | 0.1% | 0% | 0% | 0% |
| TP53 | 0.6% | 1.1% | 0% | 0% |
| Moderate & low penetrance (%) | 1.3% (52/3935) | 3.3% (10/307) | 8.1% | |
| 4.4% (4/90) | 2.8% (6/217) | |||
| RAD51C | 0.1% | 0% | 0% | 1% |
| RAD51D | 0.2% | 0% | 0.5% | 1% |
^ 7 probands & * 1 proband carried double pathogenic mutations.