Table 2.
Outcomes of patients with pathogenic mutations
| Patient number | Criteria met | Genetic mutation | Genetic counseling | Risk reduction mastectomy | Risk reduction salpingo-oophorectomy | Heightened surveillance (breast, skin, pancreas) | Familial risk counseling |
|---|---|---|---|---|---|---|---|
| 1 | Ovarian cancer | ATM | PDC | NA | * | X | ND |
| 2 | Ovarian cancer | ATM | GCC | NA | * | X | X |
| 3 | Breast cancer, ≤60 years TNBC | BRCA1 | GCC | * | ND | X | X |
| 4 | Ovarian cancer | BRCA1 | GCC | X | * | NA | X |
| 5 | Breast cancer, ≤60 years TNBC | BRCA1 | GCC | * | ND | X | X |
| 6 | Breast cancer, ≤45 years | BRCA1 | GCC | * | ND | X | X |
| 7 | Breast cancer, ≤45 years | BRCA1 | ND | * | X | NA | ND |
| 8 | Breast cancer, ≤45 years | BRCA2 | GCC | * | ND | X | X |
| 9 | Breast cancer, ≤45 years | BRCA2 | GCC | * | X | X | X |
| 10 | Breast cancer, ≤45 years | BRCA2 | ND | * | X | ND | ND |
| 11 | Breast cancer, ≤45 years | BRCA2 | GCC | * | X | X | X |
| 12 | Breast cancer, ≤60 years TNBC | BRCA2 | GCC | * | X | X | X |
| 13 | Ovarian cancer | BRIP1 | PDC | NA | * | NA | ND |
| 14 | Breast cancer, ≤45 years | PALB2 | GCC | * | NA | NA | X |
| 15 | Ovarian cancer | RAD51C | PDC | * | X | NA | ND |
| 16 | Breast cancer, ≤60 years TNBC | RAD51D | GCC | NA | * | NA | X |
*Procedure completed as part of initial cancer treatment.
GCC indicates genetic counselor counseling; NA, not applicable; ND, not done; PDC, physician-directed counseling; TNBC, triple-negative breast cancer; X, procedure completed as part of risk-reduction strategy.