Nature Genetics
7, 98 - 102 (1994)
doi:10.1038/ng0594-98
Mutations of the E−cadherin gene in human gynecologic cancersJohn I. Risinger1, Andrew Berchuck2, Matthew F. Kohler2
& Jeff Boyd1, 3
1Gynecologic Pathobiology Group, Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, P.O. Box 12233, Research Triangle Park, North Carolina 27709, USA
2Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina 27710, USA
3Correspondence should be addressed to J.B. 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.
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