Background: Germline mutations in the E-cadherin gene CDH1 have recently been described that seem to be responsible for the development of hereditary diffuse gastric cancer.
Methods: The world literature on familial gastric cancer is reviewed in terms of mutations of the E-cadherin gene CDH1.
Results: There are reports of 18 families worldwide with hereditary diffuse gastric cancer due to germline mutations of the E-cadherin gene CDH1. Germline mutations of the E-cadherin gene CDH1 lead to hereditary diffuse gastric cancer with a penetrance of about 70%. An early onset with an average age of 38 years in men and women is typical for this autosomal dominant inherited disease. Until now preventive total gastrectomies with hereditary diffuse gastric cancer have been reported in five patients.
Conclusions: Preventive total gastrectomy should be the procedure of choice in patients with a germline mutation of the E-cadherin gene CDH1. Patients with a genetic risk for familial gastric cancer who reject preventive total gastrectomy must be followed-up intensively by endoscopy every 6-12 months.