Genetics of hereditary diffuse gastric cancer: progress and future challenges

摘要: Hereditary diffuse gastric cancer (HDGC) is a rare susceptibility syndrome. One third of HDGC syndrome families carry germline mutations the E-cadherin gene. Owing to limitation current endoscopic screening techniques and since no chemoprevention yet available, total prophylactic gastrectomy only option offered carriers inactivating in genetic counseling. In this regard, 30% reported date are missense type, their pathogenic significance not straightforward, management such suboptimal. absence definitive clinical evidence, functional vitro studies together with silico analysis have been used infer mutations. Since most negative for mutations, identification alternative genes underlying tumorigenesis has become an important target research.