Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer

J Clin Pathol. 2008 Jan;61(1):25-30. doi: 10.1136/jcp.2006.043679. Epub 2007 May 18.


Gastric cancer is one of the major causes of cancer-related death worldwide. Familial clustering is observed in about 10% of cases; 1-3% of cases are hereditary. In the latter group, a syndrome which has been well characterised is hereditary diffuse gastric cancer; this is specifically associated with CDH1 (E-cadherin) germline mutations in about 30% of families. In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antigens, CD
  • Cadherins / genetics
  • Germ-Line Mutation
  • Humans
  • Mass Screening / methods
  • Mutation, Missense
  • Neoplasm Proteins / genetics
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / pathology
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology


  • Antigens, CD
  • CDH1 protein, human
  • Cadherins
  • Neoplasm Proteins