Hereditary diffuse gastric cancer in a Japanese family with a large deletion involving CDH1

Gastric Cancer. 2014 Oct;17(4):750-6. doi: 10.1007/s10120-013-0298-y. Epub 2013 Sep 15.


Hereditary diffuse gastric cancer (HDGC), characterized by susceptibility to gastric signet ring cell carcinomas (SRCCs) and caused by CDH1 germline mutations, is rare in the Japanese. We present here a Japanese family with HDGC identified by comparative genomic hybridization (CGH) analysis. A 55-year-old woman was treated with completion gastrectomy for multiple SRCCs, and pathological examination revealed approximately 200 foci of SRCC with loss of E-cadherin expression. Her 30-year-old son had surveillance endoscopy and was found to have multiple SRCCs. He underwent total gastrectomy, and 32 foci of SRCC with loss of E-cadherin expression were histologically found. Although no point mutations were detected in CDH1 by sequencing, CGH revealed a 275-kb deletion involving exons 7-16 of CDH1 in both patients. While only a few HDGCs have been reported in East Asia, patients with multiple SRCC may need to be offered appropriate genetic counseling and testing in this area.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antigens, CD
  • Asian People / genetics
  • Cadherins / genetics*
  • Cadherins / metabolism
  • Carcinoma, Signet Ring Cell / genetics
  • Carcinoma, Signet Ring Cell / pathology
  • Carcinoma, Signet Ring Cell / surgery
  • Female
  • Gastrectomy
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Sequence Deletion
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology
  • Stomach Neoplasms / surgery


  • Antigens, CD
  • CDH1 protein, human
  • Cadherins