ABSTRACT
As genetic testing becomes increasingly more accessible and more applicable with a broader range of clinical implications, it may also become more challenging for breast cancer providers to remain up-to-date. This review outlines some of the current clinical guidelines and recent literature surrounding germline genetic testing, as well as genomic testing, in the screening, prevention, diagnosis, and treatment of breast cancer, while identifying potential areas of further research.
ABSTRACT
BACKGROUND: Risk-reducing mastectomy (RRM) is the most effective breast cancer risk-reduction strategy in BRCA1/2 mutation carriers. We examined factors associated with RRM and its relationship with overall survival (OS). METHODS: Patients aged 18-80y at diagnosis of their BRCA1/2 mutation were selected from our institutional database and stratified by RRM receipt. Differences were tested; unadjusted OS was estimated. RESULTS: Of the 306 patients, median age was 43y; median follow-up was 41.6mo. Patients undergoing RRM were more often married with a history of pregnancy (both p â≤ â0.05). Of female patients, 23.1% underwent RRM. Two patients had malignancy detected at RRM, and one developed breast cancer after RRM. Higher unadjusted OS was observed with RRM (p â= â0.02). CONCLUSIONS: Our analyses suggest that family-structure may play a role in a patient's decision to undergo RRM. We also demonstrated RRM is likely associated with improved survival, potentially underscoring the importance of this option for BRCA1/2 mutation carriers.
