A systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric cancer

摘要: Hereditary diffuse gastric cancer (HDGC) is a familial syndrome specifically associated with germline mutations to the E-cadherin (CDH1) gene. HDGC characterized by autosomal dominance and high penetrance cumulative risk for advanced cancer. Our purpose in this study was identify synthesize findings from all articles on: (1) current recommendations CDH1 screening prophylactic gastrectomy; (2) testing results patients; (3) gastrectomy patients. Systematic electronic literature searches were conducted using Medline, Embase, Cochrane Central Register of Controlled Trials 1985 2009. Seventy included review. Among patients positive family history cancer, 1085 screened 454 families, 38.4% tested positive. Mutation-positive families also had considerable breast colon Of 322 criteria, 29.2% 76.8% who underwent following test results, 87.0% final histopathology 64.6% signet ring cells identified. Some negative opted undergo prior testing, ultimately found be mutations. mutation mutation-positive are recommended management HDGC.