Geographical Distribution of E-cadherin Germline Mutations in the Context of Diffuse Gastric Cancer: A Systematic Review.

摘要: Hereditary diffuse gastric cancer (HDGC) is a complex and multifactorial inherited predisposition syndrome caused by CDH1 germline mutations. Nevertheless, current genetic screening recommendations disregard an unbalanced worldwide distribution of variants, impacting testing efficacy patient management. In this systematic review, we collected analyzed all studies describing variants in patients originating from both high- low-prevalence countries. Selected were categorized as family study, series unknown according to the implementation HDGC clinical criteria for testing. Our results indicate that mutations are more frequently identified low-incidence countries, study group encompasses cases fulfilling criteria. Considering type alterations, verified relative frequency mutation types varies within groups geographical areas. missense variant higher high-incidence areas cancer, when compared with non-missense However, application scoring putative relevance led strong reduction conferring increased risk cancer. Herein, demonstrate critical identification individuals carrying significance. Further, propose future guidelines should consider GC incidence across regions improved surveillance programs early diagnosis disease.