CDH1 Mutation – Breast and Gastric Cancer

  • Recognizing family history patterns associated with specific gene mutations is important:
    • A family history of invasive lobular cancer and gastric cancer:
      • May be associated with CDH1 mutations
        • These mutations confer a 6.6 times greater risk of breast cancer than the general population:
          • And are associated with a high risk of hereditary diffuse gastric cancer (55% to 80%)
    • Patients with CDH1 mutations:
      • Should be offered prophylactic gastrectomy
      • Consideration of bilateral prophylactic mastectomy:
        • Based on family history
      • If surgery is not pursued, guidelines for screening for gastric cancer include:
        • Yearly endoscopic surveillance with random mucosal biopsies;
      • Breast screening consists of:
        • Annual mammogram and breast MRI
  • References:
    • Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, et al. Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol. 2015;1(1):23-32.
    • 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
    • van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, et al . Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;52(6):361-374.
    • National Comprehensive Cancer Network Guidelines. Genetic/familial high-risk assessment: breast and ovarian, Version 1/2018. Accessed November 9, 2019.

#Arrangoiz #CancerSurgeon #BreastSurgeon #SurgicalOncology #BreastCancer #CASO #CenterforAdvancedSurgicalOncology #PalmettoGeneralHospital

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