[Hereditary diffuse gastric cancer]

Klin Onkol. 2012;25 Suppl:S30-3.
[Article in Czech]


Hereditary diffuse gastric cancer is an autosomal dominant syndrome with a high lifetime risk of diffuse gastric cancer and also a high risk of lobular breast carcinoma. Hereditary diffuse gastric cancer (HDGC) is characterized by late presentation and a poor prognosis. The average age of onset of HDGC is 38 years, with a range of 14-69 years. The estimated lifetime risk of developing gastric cancer by age 80 is 67% for men and 83% for women. Many families with HDGC have germline mutations in the E-cadherin (CDH1) gene. We describe indication for genetic testing of germline mutations in CDH1 gene, possibilities of predictive testing, preventive care, prophylactic gastrectomy and preimplantation diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Antigens, CD
  • Breast Neoplasms / genetics
  • Cadherins / genetics
  • Female
  • Germ-Line Mutation
  • Humans
  • Male
  • Middle Aged
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology
  • Stomach Neoplasms / prevention & control
  • Young Adult


  • Antigens, CD
  • CDH1 protein, human
  • Cadherins