BRCA1/2 mutation carriers & risk reducing mastectomy: Who undergoes surgery and potential benefits

Am J Surg. 2024 Jan:227:146-152. doi: 10.1016/j.amjsurg.2023.10.011. Epub 2023 Oct 5.

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 ​≤ ​0.05). 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 ​= ​0.02).

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.

Keywords: BRCA; Breast cancer; Genetics; Mastectomy; Prophylactic; Risk-reducing.

MeSH terms

  • Adult
  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / prevention & control
  • Breast Neoplasms* / surgery
  • Female
  • Genes, BRCA2
  • Heterozygote
  • Humans
  • Mastectomy*
  • Mutation

Substances

  • BRCA1 protein, human
  • BRCA1 Protein
  • BRCA2 protein, human
  • BRCA2 Protein