E-cadherin and hereditary diffuse gastric cancer.

BACKGROUND. Hereditary Diffuse Gastric Cancer syndrome is an inherited genetic predisposition associated with the E-cadherin (CDH1 gene) germline mutation. Firstly described in 1998 in three Maori kindred, to date several CDH1 mutations have been identified. METHODS. Starting from 1998, we collected all E-cadherin mutations reported in literature. We performed a complete review discussing about E-cadherin function, gastric pathology, clinical criteria, prophylactic total gastrectomy, clinical management for asymptomatic mutation carriers and surveillance. RESULTS AND CONCLUSIONS. We identified important clinico-pathologic differences between Maori vs. non-Maori population CDH1 mutation carriers, in particular in age at onset and gastric tumor behaviours. Finally, our data suggested an intensive endoscopic surveillance for asymptomatic E-cadherin germline missense mutation carriers, in which prophylactic gastrectomy could be rather excessive.