Characterization of the P373L E-cadherin germline missense mutation and implication for clinical management.

摘要: Aim: Hereditary diffuse gastric cancer (HDGC) is a susceptibility syndrome caused by E-cadherin germline mutations. One-third of these mutations are the missense type, representing burden in genetic counselling. A new mutation (P373L) was recently identified HDGC Italian family. The present work aimed at addressing disease-causative nature P373L mutant. Methods: Assessment effect based on cell aggregation and invasion assays. LOH analysis locus, search for somatic promoter hypermethylation were performed to identify mechanism inactivation wild-type allele tumour. Results: In vitro impaired functions. observed tumour carrier. Conclusion: We conclude that combination clinical, molecular data helpful establishing an accurate HDGC-associated CDH1 subsequently appropriate clinical management asymptomatic carriers.