E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

Hum Mutat. 1999;14(3):249-55. doi: 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9.


To extend earlier observations of germline E-cadherin mutations in kindreds with an inherited susceptibility to diffuse gastric cancer, we searched for germline E-cadherin mutations in five further families affected predominantly by diffuse gastric cancer and one family with a history of diffuse gastric cancer and early-onset breast cancer. Heterozygous inactivating mutations were found in the E-cadherin gene in each of these families. No mutation hotspots were identified. These results demonstrate that germline mutation of the E-cadherin gene is a common cause of hereditary diffuse gastric cancer and suggest a role for these mutations in the incidence of breast cancer.

Publication types

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

MeSH terms

  • Adenocarcinoma / genetics*
  • Adult
  • Aged
  • Aged, 80 and over
  • Breast Neoplasms / genetics*
  • Cadherins / genetics*
  • DNA Mutational Analysis
  • Female
  • Germ-Line Mutation*
  • Humans
  • Leukocytes
  • Loss of Heterozygosity
  • Male
  • Middle Aged
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Stomach Neoplasms / genetics*
  • Syndrome


  • Cadherins