CDH1 Mutation and Breast Cancer

👉A BRCA gene mutation is the most commonly identified clinically actionable result of any gene test.

👉A family history of a combination of early-onset gastric cancer and infiltrating lobular carcinoma of the breast should raise concern for hereditary diffuse gastric cancer syndrome.

👉This syndrome is caused by a mutation in the CDH1 (E-cadherin) gene.

👉Lifetime risk for signet cell diffuse gastric cancer is estimated at 70% and infiltrating lobular carcinoma at 40%.

👉Prophylactic gastrectomy is recommended for CDH1 mutation carriers with a family history of diffuse gastric cancer.

👉CDH1-mutated families with multiple (and often bilateral) infiltrating lobular cancers, but no gastric cancers, are increasingly recognized.

👉Enhanced surveillance with breast magnetic resonance imaging is recommended for women with CDH1 mutations.


  1. Corso G, Figueiredo J, Biffi R, et al. E-cadherin germline mutation carriers: clinical management and genetic implications. Cancer Metastasis Rev. 2014;33:1081-1094.
  2. Kurian AW, Hare EE, Mills MA, et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. J Clin Oncol. 2014;32:2001-2009.
  3. Daly M, Pilarski R, Axilbund, et al. Genetic/familial high-risk assessment: breast and ovarian, version 2.2015. J Natl Compr Canc Netw. 2016;14:153-162.
  4. Petridis C, Shinomiya I, Kohut K, et al. Germline CDH1 mutations in bilateral lobular carcinoma in situ. Br J Cancer. 2014;110:1053-1057.
  5. Pharoah PD, Guilford P, Caldas C, et al. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121:1348-1353.
  6. Tung N, Battelli C, Allen B, et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer. 2015;121:25-33.

#Arrangoiz #BreastCancer #BreastSurgeon #CancerSurgeon

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