Article
Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study.
Familial cancer - 1 Jun 2014
Bardram Linda, Hansen Thomas V O, Gerdes Anne-Marie, Timshel Susanne, Friis-Hansen Lennart, Federspiel Birgitte
Abstract excerpt
Inactivating mutations in the CDH1 (E-cadherin) gene are the predisposing cause of gastric cancer in most families with hereditary diffuse gastric cancer (HDGC). The lifetime risk of cancer in mutation positive members is more than 80 % and prophylactic total gastrectomy is recommended. Not all mutations in the CDH1 gene are however pathogenic and it is important to classify mutations before this major operation...
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