BRCA 1 and BRCA 2 Mutations

Rodrigo Arrangoiz MS, MD, FACS, FSSO
  • Women with pathogenic BRCA1 or BRCA 2 germline variants:
    • Have a high lifetime risk of breast cancer as well as a high risk of ipsilateral second breast cancer and contralateral breast cancer events
  • A subgroup analysis of high-risk women on chemoprevention with tamoxifen showed:
    • A reduction in the incidence of breast cancer in women with pathogenic BRCA2, but not BRCA1, gene variants [1,2] 
  • The majority of women with pathogenic BRCA2 gene variants who develop breast cancer:
    • Will have ER+ tumors:
      • Unlike women with pathogenic BRCA1 variants:
        • Who have a higher percentage of ER- and PR- breast cancers
  • Denosumab (Prolia®, Xgeva®):
    • Is a human, anti-RANKL monoclonal antibody:
      • That blocks the progesterone-induced increase in Ki-67 and may have a future role as a chemoprevention agent:
        • However, the FDA has not yet approved denosumab for chemoprevention [1]
  • Bilateral risk-reducing mastectomy:
    • Is the most effective means to prevent BRCA1- or BRCA 2-associated breast cancer:
      • But it does not impact all-cause mortality
    • In addition, breast-conserving therapy is a safe option with similar mortality rates [1]
  • Bilateral risk-reducing oophorectomy:
    • Prior to development of a breast cancer in premenopausal women with pathogenic BRCA1 or BRCA 2 variants:
      • Is associated with a 77% reduction in all-cause mortality [1]
    • Other studies have also shown a 25% to 50% reduction in breast cancer risk in patients with pathogenic BRCA1 or BRCA 2 variants after bilateral risk-reducing oophorectomy [4]
  • Women with BRCA1 and BRCA 2 pathogenic variants diagnosed with unilateral breast cancer under the age of 50:
    • Have an increased risk of contralateral breast cancer
  • Aromatase inhibitor use was associated with decreased contralateral breast cancer risk among patients with BRCA1 or BRCA 2 pathogenic variants (HR 0.44, p=0.004):
    • Whereas tamoxifen was not [5] 
  • References:
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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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