BRCA Mutations in the Young, High-Risk Female Population: Genetic Testing, Management of Prophylactic Therapies, and Implications for Plastic Surgeons

Summary: Growing public awareness of hereditary breast cancers, notably BRCA1 and BRCA2, and increasing popularity of personalized medicine have led to a greater number of young adult patients presenting for risk-reduction mastectomies and breast reconstruction. Plastic surgeons must be familiar with treatment guidelines, necessary referral patterns, and particular needs of these patients to appropriately manage their care. Genetic testing for BRCA1 and BRCA2 is most often reserved for patients older than the age of consent, and can be performed in the young adult population (aged 18 to 25 years) with the appropriate preemptive genetic counseling. Subsequent risk-reduction procedures are usually delayed until at least the latter end of the young adult age range, and must be considered on an individualized basis with regard for a patient's level of maturity and autonomy. Prophylactic mastectomies in young adults also can serve to aid the unique psychosocial needs of this population, although the long-term psychological and physical ramifications must be considered carefully. With the development of nipple-sparing mastectomy and improvement in reconstructive techniques, risk-reducing surgery has become more accepted in the younger population. Immediate, implant-based reconstruction is a common reconstructive technique in these patients but requires extensive discussion regarding reconstructive goals, the risk of possible complications, and long-term implications of these procedures. Comprehensive, continuous support with multispecialty counseling is necessary throughout the spectrum of care for the high-risk, young adult patient.