What Does it Mean to Have a CHEK2 Mutation?

Rodrigo Arrangoiz MS, MD, FACS, FSSO
  • Truncating CHEK2 mutations (such as the c.1100delC mutation):
    • Are considered rare, moderate penetrance mutations
  • The lifetime risk of developing breast cancer with these mutations:
    • Is 3 times higher than the general population:
      • This means that the majority of patients with these mutations will not develop breast cancer, and many of the cancers that do develop may be sporadic and not related to the mutation:
        • Patients with these mutations should be counseled about their risk and the available risk management strategies
  • Those with a significant family history of breast cancer:
    • Should be counseled regarding high risk breast cancer screening:
      • Annual mammogram with consideration of annual MRI starting at age 40 or modified to an earlier age based on family history
    • Should be counseled regarding prevention strategies, including:
      • Chemoprevention and prophylactic surgery
  • It should be emphasized that there is less absolute risk-reduction benefit with prophylactic surgery compared to high-penetrance mutations like BRCA mutations, and recommendations should be based on patient’s family history
  • National Comprehensive Cancer Network guidelines:
    • Should be followed with recommendation for high-risk screening, including colon cancer screening recommendations among individuals with a CHEK2 mutation
  • References
    • Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet. 2008;40(1):17-22.
    • Desmond A, Kurian AW, Gabree M, Mills MA, Anderson MJ, Kobayashi Y, et al. Clinical actionability of multigene panel testing for hereditary breast and ovarian cancer risk assessment. JAMA Oncol. 2015;1(7):943-951.
    • Weiss A, Garber JE, King T. Breast cancer surgical risk reduction for patients with inherited mutations in moderate penetrance genes. JAMA Surg. 2018;153(12):1145-1146.
    • Tung N, Domchek SM, Stadler Z, Nathanson KL, Couch F, Garber JE, et al. Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol. 2016;13(9):581-588.
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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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