Hereditary diffuse gastric cancer: diagnosis, genetic counseling, and prophylactic total gastrectomy.

Publication Type:

Journal Article


Cancer, Volume 112, Issue 12, p.2655-63 (2008)


2008, Adult, Aged, Cadherins, Clinical Research Division, Cohort Studies, Female, Gastrectomy, Genetic Counseling, Heterozygote, Humans, Male, Middle Aged, Mutation, Pedigree, Stomach Neoplasms


A subset of patients with diffuse gastric cancer harbor deleterious cancer-causing germline mutations in the type 1 E-cadherin (epithelial) gene (CDH1), which predisposes to the autosomal dominantly inherited hereditary diffuse gastric cancer (HDGC) syndrome. These mutations are associated with a 70% life-time risk for diffuse gastric cancer (DGC) and an additional 40% risk for lobular breast cancer in women. Management options for unaffected mutation carriers include prophylactic total gastrectomy.