Hereditary Breast Cancer Syndromes

Rodrigo Arrangoiz MS, MD, FACS, FSSO
  • A number of hereditary syndromes:
    • Are associated with an increased risk of breast cancer
  • The most common involve mutations of the:
    • BRCA1 and BRCA2 genes
  • The risk of breast cancer among women with BRCA1 mutations:
    • Approaches 80%, with ovarian cancer risk as high as 45%
  • BRCA2 carriers:
    • Have slightly lower rates of both breast (up to 60%) and ovarian (up to 25%) cancers
  • Male breast cancers:
    • Are more likely to be BRCA2 if the man is found to be a gene carrier
  • Less than half of the hereditary cancers are secondary to non-BRCA genetic mutations
  • Cowden Syndrome:
    • Is associated with PTEN mutations and has an autosomal dominance inheritance pattern
    • Individuals have an increased lifetime risk of:
      • Breast cancer (20% to 50%):
        • With most diagnosed before age 50 years
      • As well as high rates of benign breast disease
    • Follicular thyroid and endometrial cancers:
      • Are commonly seen in association with this syndrome as well
    • Screening includes surveillance of the kidneys and colon, as they are increased in risk for cancers of these organs as well
  • Peutz-Jeghers syndrome:
    • Is characterized by mutations in STK11 and also demonstrates autosomal dominant inheritance
    • Individuals have a breast cancer risk of 55%:
      • Along with elevated rates of both ovarian and uterine cancer
    • These individuals often have:
      • Multiple hamartomatous polyps throughout the gastrointestinal tract:
        • As well as multiple melanin deposits in the mouth, lips, fingers, and toes
  • Li-Fraumeni syndrome:
    • Is characterized by mutations of the TP53:
      • A suppressor gene and is also inherited in an autosomal dominant pattern
    • These individuals have strikingly high rates of malignancy:
      • With 50% of individuals diagnosed with cancer by age 30, and 90% diagnosed with cancer by age 70
    • Malignancies include:
      • Breast:
        • With the majority diagnosed by age 45 years
      • Sarcomas, osteosarcomas, leukemias, brain tumors, and adrenocortical tumors
    • Radiation-induced tumors have been seen frequently among these patients:
      • Leading many radiation oncologists to advise against breast-conservation therapy in women with Li-Fraumeni diagnosed with breast cancers
  • References:
    • Economopoulou P, Dimitriadis G, Psyrri A. Beyond BRCA: New hereditary breast cancer susceptibility genes. Cancer Treat Rev. 2015;41:1-8.
    • Issacs C, Peshkin BN, Schwartz M. Genetic testing and management of patients with hereditary breast cancer diseases of the breast. In: Harris JR, Lippman ME, Morrow M, Osborne CK, eds. Diseases of the Breast. 4th ed. Philadelphia, PA: Wolters Kluwer/Lippincott Williams & Wilkins; 2010:224-247.
    • National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Genetic / Familial High-Risk Assessment: Breast and Ovarian. Available at http://www.nccn.org.
    • Ready K, Arun B. Breast cancer syndromes: counseling and management. In: Babiera GV, Skoracki RJ, Esteva FJ, eds. Advanced Therapy of Breast Disease. 3rd ed. Shelton, CT: People’s Medical Publishing House-USA; 2012:29-38.
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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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