Identification of germ-line E-cadherin mutations in gastric cancer families of European origin

Simon A. Gayther, Kylie L. Gorringe, Susan J. Ramus, David Huntsman, Franco Roviello, Nicola Grehan, Jose C. Machado, Enrico Pinto, Raquel Seruca, Kevin Halling, Patrick MacLeod, Steven M. Powell, Charles E. Jackson, Bruce A.J. Ponder, Carlos Caldas

Research output: Contribution to journalArticle

292 Scopus citations

Abstract

E-cadherin germ-line mutations have recently been described as a molecular basis for early-onset familial gastric cancer in Maori kindred. We screened 18 gastric cancer families of European origin for germ-line mutations to determine the proportion in which E-cadherin mutations occur and the clinical characteristics of the affected families. Truncating mutations were identified in three kindred with familial diffuse gastric cancer. In these families, the age of onset of gastric cancer was variable, the penetrance was incomplete, and one kindred contained individuals with cancers at other sites. Here, we show that a proportion of diffuse gastric cancer families of European origin have germ-line E-cadherin mutations; however, these mutations are absent in intestinal gastric cancer families.

Original languageEnglish (US)
Pages (from-to)4086-4089
Number of pages4
JournalCancer research
Volume58
Issue number18
StatePublished - Sep 15 1998

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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    Gayther, S. A., Gorringe, K. L., Ramus, S. J., Huntsman, D., Roviello, F., Grehan, N., Machado, J. C., Pinto, E., Seruca, R., Halling, K., MacLeod, P., Powell, S. M., Jackson, C. E., Ponder, B. A. J., & Caldas, C. (1998). Identification of germ-line E-cadherin mutations in gastric cancer families of European origin. Cancer research, 58(18), 4086-4089.