Case series of three patients with hereditary diffuse gastric cancer in a single family: Three case reports and review of literature

World J Gastroenterol. 2020 Nov 14;26(42):6689-6697. doi: 10.3748/wjg.v26.i42.6689.


Background: Hereditary diffuse gastric cancer (HDGC) is a familial cancer syndrome often associated with germline mutations in the CDH1 gene. However, the frequency of CDH1 mutations is low in patients with HDGC in East Asian countries. Herein, we report three cases of HDGC harboring a missense CDH1 variant, c.1679C>G, from a single Japanese family.

Case summary: A 26-year-old female (Case 1) and a 51-year-old male (father of Case 1), who had a strong family history of gastric cancer, were diagnosed with advanced diffuse gastric cancer. After genetic counselling, a 25-year-old younger brother of Case 1 underwent surveillance esophagogastroduodenoscopy that detected small signet ring cell carcinoma foci as multiple pale lesions in the gastric mucosa. Genetic analysis revealed a CDH1 c.1679C>G variant in all three patients.

Conclusion: It is important for individuals suspected of having HDGC to be actively offered genetics evaluation. This report will contribute to an increased awareness of HDGC.

Keywords: CDH1; Case report; E-cadherin; Endoscopic findings; Hereditary diffuse gastric cancer; Signet ring cell carcinoma.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Asia, Eastern
  • Cadherins / genetics
  • Carcinoma, Signet Ring Cell* / diagnostic imaging
  • Carcinoma, Signet Ring Cell* / genetics
  • Female
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Male
  • Middle Aged
  • Stomach Neoplasms* / diagnostic imaging
  • Stomach Neoplasms* / genetics


  • Cadherins