| Patient population | Intervention(s) that may be appropriate |
| Risk reduction |
| Women | - Increased surveillance for breast cancer (clinical examination starting at age 25, mammography starting at age 30, MRI starting at age 25 to 29)
- Possible increased surveillance for gynecologic cancer (transvaginal ultrasound, CA-125)
- Risk-reducing bilateral mastectomy (shared decision-making)
- Recommendation for risk-reducing bilateral salpingo-oophorectomy after childbearing (age 35 to 40 for BRCA1 carriers and 40 to 45 for BRCA2 carriers), discussion of potential risks and benefits of hysterectomy
- Preconception counseling; some may opt for alternative reproductive technologies (donor gametes, IVF with PGT)
|
| Men | - Increased surveillance for prostate cancer (screening starting at age 40 for BRCA2 carriers, possible screening for BRCA1 carriers)
- Preconception counseling; some may opt for alternative reproductive technologies (donor gametes, IVF with PGT)
|
| Family members |
| First- and second-degree relatives | - Genetic testing for the familial variant in adult at-risk relatives
- Cascade testing of their relatives if appropriate
|
| Cancer management |
| Breast cancer | - Early-stage disease – Possible bilateral mastectomy for women
- Metastatic disease
- Increased sensitivity to platinum-containing regimens
- Systemic therapy including a PARP inhibitor
|
| Ovarian or other gynecologic cancer | - Standard therapy based on tumor stage
- Bilateral salpingo-oophorectomy if early stage disease
- Increased sensitivity to platinum-containing regimens
- Systemic therapy including a PARP inhibitor
|
| Prostate cancer | - Standard management based on PSA, stage, and grade
- Possible use of more aggressive therapy for low-risk disease
- Metastatic disease – Systemic therapy including a PARP inhibitor
|
