BRCA Mutation Carries Screening Recommendations and Risk Reducing Strategies

Rodrigo Arrangoiz MS, MD, FACS, FSSO
  • Women with BRCA1 / BRCA 2 mutations:
    • Are at an increased lifetime risk of both:
      • Breast and ovarian cancer
  • Patients with a known BRCA 1 / BRCA 2 mutation:
    • Are recommended to undergo increased imaging surveillance with:
      • Annual breast MRI screening from age 25 to 29
      • Annual mammogram and breast MRI screening from age 30 to 75
  • Options for risk reduction among BRCA carriers include:
    • The use of chemoprevention or risk-reducing surgery:
      • The subset of patients with a BRCA2 mutation receiving tamoxifen in the NSABP P1 study:
        • Had a 62% reduction in breast cancer risk relative to placebo (relative risk [RR] 0.38, 95% CI 0.06-1.56)
    • A more recent case-control study of women with BRCA mutations:
      • Showed a 50% reduction in breast cancer risk associated with tamoxifen use, and was effective in both BRCA1 and BRCA2 mutation carriers (odds ratio [OR] 0.63 [BRCA 2] vs. 0.38 [BRCA 1])
  • Because the onset of ovarian cancer for BRCA2 carriers tends to be up to 10 years later than that in BRCA1 carriers:
    • BSO is recommended at the completion of childbearing or age 40 to 45
  • The recommended age for BRCA1 mutation carriers:
    • To undergo BSO is age 35 to 40
  • In the PROSE study:
    • Women with BRCA 1 / BRCA 2 mutations who underwent bilateral risk reducing mastectomy (RRM) for breast cancer risk reduction:
      • Were compared to controls who did not undergo prophylactic surgery
    • Bilateral RRM reduced the risk of breast cancer by approximately 90% in women with intact ovaries and 95% in women with prior or concurrent BSO
  • While retrospective analyses have confirmed a similar degree of breast cancer risk reduction in BRCA1 / BRCA 2 mutation carriers following bilateral RRM:
    • This procedure is not significantly associated with reduced all-cause mortality
  • A recent prospective study of 3,722 women with BRCA 1 and 2 mutations demonstrated that BSO was associated with a significantly reduced risk of breast cancer for BRCA 2 mutation carriers diagnosed prior to age 50 (age-adjusted HR 0.18, p = 0.007):
    • However, the same effect was not seen for BRCA1 mutation carriers undergoing BSO (age-adjusted HR 0.79, p = 0.051)
  • References
    • National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/familial assessment: breast and ovarian, Version 1.2018. October 3, 2018 https://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdfAccessed November 8, 2019.
    • Fisher B, Costantino JP, Wickerham DL, Redmond CK, Kavanah M, Cronin WM, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst. 1998;90(18):1371-1388.
    • Narod SA, Brunet JS, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet. 2000;356(9245):1876-1881.
    • Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van ‘t Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22(6):1055-1062.
    • Li X, You R, Wang X, Liu C4, Xu Z5, Zhou J, et al. Effectiveness of prophylactic surgeries in BRCA1 or BRCA2 mutation carriers: a meta-analysis and systematic review. Clin Cancer Res. 2016;22(15):3971-3781
    • Kotsopoulos J, Huzarski T, Gronwald J, Singer CF, Moller P, Lynch HT, et al. Bilateral oophorectomy and breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2016;109(1).
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Published by Rodrigo Arrangoiz MS, MD, FACS, FSSO

My name is Rodrigo Arrangoiz I am a breast surgeon/ thyroid surgeon / parathyroid surgeon / head and neck surgeon / surgical oncologist that works at Center for Advanced Surgical Oncology in Miami, Florida. I was trained as a surgeon at Michigan State University from (2005 to 2010) where I was a chief resident in 2010. My surgical oncology and head and neck training was performed at the Fox Chase Cancer Center in Philadelphia from 2010 to 2012. At the same time I underwent a masters in science (Clinical research for health professionals) at the University of Drexel. Through the International Federation of Head and Neck Societies / Memorial Sloan Kettering Cancer Center I performed a two year head and neck surgery and oncology / endocrine fellowship that ended in 2016. Mi nombre es Rodrigo Arrangoiz, soy cirujano oncólogo / cirujano de tumores de cabeza y cuello / cirujano endocrino que trabaja Center for Advanced Surgical Oncology en Miami, Florida. Fui entrenado como cirujano en Michigan State University (2005 a 2010 ) donde fui jefe de residentes en 2010. Mi formación en oncología quirúrgica y e n tumores de cabeza y cuello se realizó en el Fox Chase Cancer Center en Filadelfia de 2010 a 2012. Al mismo tiempo, me sometí a una maestría en ciencias (investigación clínica para profesionales de la salud) en la Universidad de Drexel. A través de la Federación Internacional de Sociedades de Cabeza y Cuello / Memorial Sloan Kettering Cancer Center realicé una sub especialidad en cirugía de cabeza y cuello / cirugia endocrina de dos años que terminó en 2016.

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