Article
Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.
Human mutation - 1 Feb 2007
More H, Humar B, Weber W, Ward R, Christian A, Lintott C, Graziano F, Ruzzo A-M, Acosta E, Boman B, Harlan M, Ferreira P, Seruca R, Suriano G, Guilford P
Abstract excerpt
Hereditary diffuse gastric cancer (HDGC) is a cancer predisposition syndrome caused by germline mutation of the gene encoding the tumour-suppressor E-cadherin (CDH1). We describe the search for CDH1 mutations in 36 new diffuse gastric cancer families. All 16 CDH1 exons, neighbouring intronic sequence and an essential promoter region were screened by DNA sequencing. We detected nine different mutations, seven of...
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