• BRCA mutation carriers:
    • Face a cumulative lifetime breast cancer risk:
      • Of approximately 60% in BRCA1 and 50% in BRCA2 by age 70
  • Imaging surveillance begins at age 25:
    • With annual breast MRI with contrast:
      • With addition of mammography after age 30
    • Although use of screening ultrasound is evolving in women with dense breast tissue:
      • Its use in BRCA carriers has not been defined.1
  • Surveillance strategies:
    • Have significantly improved early detection but do not prevent breast cancer
  • Bilateral salpingo-oophorectomy:
    • Has been shown to provide approximately 50% relative reduction in breast cancer risk:
      • But ultimately prophylactic mastectomy provides the greatest reduction
  • The optimal timing of surgery depends on multiple factors, including:
    • The patient’s desire for future breastfeeding and ages of family members at diagnosis
  • Several retrospective series and meta-analyses of four prospective studies have supported prophylactic mastectomy in BRCA mutation carriers:
    • While the data demonstrate a 93% relative risk reduction in breast cancers:
      • They do not demonstrate a survival benefit in this population
  • Recent non-randomized studies:
    • Have evaluated use of nipple-sparing mastectomy (NSM) and demonstrated its feasibility and safety in patients with BRCA mutation:
      • Jakub et al. reported data from 548 risk-reducing NSMs in 346 patients treated at 9 institutions:
        • This study included both women opting for prophylactic mastectomies concurrent with treatment for a contralateral breast cancer, and women undergoing bilateral prophylactic mastectomies for risk reduction
        • With median and mean follow up of 34 and 56 months, respectively, no ipsilateral breast cancers occurred after prophylactic NSM
        • Breast cancer did not develop in any patients undergoing bilateral risk-reducing NSMs
  • References
    • Heemskerk-Gerritsen BA, Menke-Pluijmers MB, Jager A, et al. Substantial breast cancer risk reduction and potential survival benefit after bilateral mastectomy when compared with surveillance in healthy BRCA1 and BRCA2 mutation carriers: a prospective analysis. Ann Oncol. 2013;24(8):2029-2035.
    • Genetic/familial high-risk assessment: breast and ovarian. National Comprehensive Cancer Network. Version 2.2019. https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Accessed September 16, 2018.
    • De Felice F, Marchetti C, Musella A, et al. Bilateral risk-reduction mastectomy in BRCA1 and BRCA2 mutation carriers: a meta-analysis. Ann Surg Oncol. 2015;22(9):2876-2880.
    • Ludwig KK, Neuner J, Butler A. Risk reduction and survival benefit of prophylactic surgery in BRCA mutation carriers: a systematic review. Am J Surg. 2016;212(4):660-669
    • Jakub JW, Peled AW, Gray RJ. Oncologic Safety of Prophylactic Nipple-Sparing Mastectomy in a Population With BRCA Mutations: A Multi-institutional Study. JAMA Surg. 2018;153:123-129.
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