The Annual Risk for BRCA Mutation Carriers

• The annual risk for BRCA mutation carriers:
  • Is estimated to be 2.1%
• The risk of contralateral breast cancer at 20 years post initial breast cancer diagnosis is:
  • 41% in BRCA1 mutation carriers:
    • Age at diagnosis does affect risk of contralateral breast cancer:
      • Women under 40 are at highest risk
  • Tamoxifen has been shown to decrease the risk of contralateral breast cancer overall
• Phillips et al:
  • Report that estrogen receptor status of the initial breast cancer diagnosis did not affect contralateral breast cancer risk:
    • However the status was missing in over 50% of the cohort
  • In addition, women found to be at the highest risk:
    • Were those diagnosed with initial breast cancer under age 50
    • With two or more family members with history of breast cancer
    • Intact ovaries
      • The 15-year risk of contralateral breast cancer was 68% in these women
  • These women should be counseled about risk reducing contralateral mastectomy and salpingo-oopherectomy
  • The strongest predictor of contralateral risk was oophorectomy
  • Contralateral prophylactic mastectomy is a controversial area in breast surgical oncology, and patient decision-making around this process continues to be studied
• References
  • Metcalfe K, Gershman S, Lynch HT, et al. Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer. 2011;104(9):1384–1392.
  • Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2013;31(25):3091-3099.
  • Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317(23):2402-2416.

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