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

Parry J. Guilford, Justin B.W. Hopkins, William M. Grady, Sanford D. Markowitz, Joseph Willis, Henry Lynch, Ashwani Rajput, Georgia L. Wiesner, Noralane M. Lindor, Lawrence J. Burgart, Tumi T. Toro, Don Lee, Jean Marc Limacher, David W. Shaw, Michael P.N. Findlay, Anthony E. Reeve

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219 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)249-255
Number of pages7
JournalHuman mutation
Volume14
Issue number3
DOIs
StatePublished - Sep 6 1999

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    Guilford, P. J., Hopkins, J. B. W., Grady, W. M., Markowitz, S. D., Willis, J., Lynch, H., Rajput, A., Wiesner, G. L., Lindor, N. M., Burgart, L. J., Toro, T. T., Lee, D., Limacher, J. M., Shaw, D. W., Findlay, M. P. N., & Reeve, A. E. (1999). E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer. Human mutation, 14(3), 249-255. https://doi.org/10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9