Characterization of a recurrent germ line mutation of the E-cadherin gene: Implications for genetic testing and clinical management

Gianpaolo Suriano, Sandie Yew, Paulo Ferreira, Janine Senz, Pardeep Kaurah, James M. Ford, Teri A. Longacre, Jeffrey A. Norton, Nicki Chun, Sean Young, Maria J. Oliveira, Barbara MacGillivray, Arundhati Rao, Dawn Sears, Charles E. Jackson, Jeff Boyd, Cindy Yee, Carolyn Deters, G. Shashidhar Pai, Lyn S. HammondBobbi J. McGivern, Diane Medgyesy, Denise Sartz, Banu Arun, Brant K. Oelschlager, Mellisa P. Upton, Whitney Neufeld-Kaiser, Orlando E. Silva, Talia R. Donenberg, David A. Kooby, Shobha Sharma, Björn Anders Jonsson, Henrik Gronberg, Steve Gallinger, Raquel Seruca, Henry Lynch, David G. Huntsman

Research output: Contribution to journalArticlepeer-review

147 Scopus citations


Purpose: To identify germ line CDH1 mutations in hereditary diffuse gastric cancer (HDGC) families and develop guidelines for management of at risk individuals. Experimental Design: We ascertained 31 HDGC previously unreported families, including 10 isolated early-onset diffuse gastric cancer (DGC) cases. Screening for CDH1 germ line mutations was done by denaturing high-performance liquid chromatography and automated DNA sequencing. Results: We identified eight inactivating and one missense CDH1 germ line mutation. The mis-sense mutation conferred in vitro loss of protein function. Two families had the previously described 1003C>T nonsense mutation. Haplotype analysis revealed this to be a recurrent and not a founder mutation. Thirty-six percent (5 of 14) of the families with a documented DGC diagnosed before the age of 50 and other cases of gastric cancer carried CDH1 germ line mutations. Two of 10 isolated cases of DGC in individuals ages T mutation carriers. Conclusions: In addition to families with a strong history of early-onset DGC, CDH1 mutation screening should be offered to isolated cases of DGC in individuals ages

Original languageEnglish (US)
Pages (from-to)5401-5409
Number of pages9
JournalClinical Cancer Research
Issue number15
StatePublished - Aug 1 2005

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research


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