Pathophysiology of Hereditary Diffuse Gastric Cancer

摘要: Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant disorder, characterised by early onset (DGC). Approximately 30 % of families that meet current clinical criteria for genetic testing are found to have mutations in the cadherin 1 (CDH1) gene, which encodes E-cadherin, a glycoprotein with roles cell adhesion and signalling. The lifetime risk or disease penetrance variable has been estimated between 60 80 %. Patients usually first develop intramucosal signet ring carcinomas (SRCCs), often multifocal difficult identify via routine white light endoscopy. Current guidelines recommend prophylactic total gastrectomy, under care multidisciplinary team experience management HDGC. environmental factors influence HDGC mutation carriers unknown, further research needed this area.