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 T. 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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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
Pages (from-to)249-255
Number of pages7
JournalHuman Mutation
Volume14
Issue number3
DOIs
StatePublished - 1999

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Guilford, P. J., Hopkins, J. B. W., Grady, W. M., Markowitz, S. D., Willis, J., Lynch, H. T., 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