Mutations of the E-cadherin gene in human gynecologic cancers

Nat Genet. 1994 May;7(1):98-102. doi: 10.1038/ng0594-98.


Expression of the E-cadherin cell adhesion molecule is reduced in several types of human carcinomas, and the protein serves as an invasion suppressor in vitro. To determine if mutations of the E-cadherin gene (on chromosome 16q22) contribute to epithelial tumorigenesis, 135 carcinomas of the endometrium and ovary were examined for alterations in the E-cadherin coding region. Four mutations were identified: one somatic nonsense and one somatic missense mutation, both with retention of the wild-type alleles, and two missense mutations with somatic loss of heterozygosity in the tumour tissue. These data support the classification of E-cadherin as a human tumour suppressor gene.

MeSH terms

  • Alleles
  • Base Sequence
  • Cadherins / genetics*
  • Carcinoma / genetics*
  • Codon / genetics
  • DNA Mutational Analysis
  • DNA, Complementary / genetics
  • DNA, Neoplasm / genetics*
  • Endometrial Neoplasms / genetics*
  • Female
  • Gene Deletion
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Molecular Sequence Data
  • Neoplasm Proteins / genetics
  • Ovarian Neoplasms / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*


  • Cadherins
  • Codon
  • DNA, Complementary
  • DNA, Neoplasm
  • Neoplasm Proteins

Associated data

  • GENBANK/Z13009