E-Cadherin Gene (CDH1) Mutations for Detection of Familial Occult Gastric Cancer

E-cadherin is a calcium-dependent, transmembrane molecule associated with the epithelial cell actin cytoskeleton. When complexed with catenins, it plays a central role in cell-cell adhesion. Inactivating mutations of the CDH1 gene that encodes E-cadherin were initially reported in a Maori kindred with hereditary diffuse gastric cancer. In those affected, gastric cancer was usually detected before age 40 years. It has been estimated that this hereditary diffuse form of gastric cancer accounts for less than 3% of all gastric adenocarcinomas, even though about 10% occur in a familial setting, including those associated with hereditary nonpolyposis colorectal cancer and familial colonic polyposis. In those with the potential to develop hereditary gastric cancer, surgical treatment has been offered as a preventive treatment. The present study involving investigators from several countries (including the British Columbia Cancer Agency, Vancouver and Victoria General Hospital, Victoria, British Columbia) reported genetic screening and pathological changes in young persons with truncating mutations of CDH1 from two unrelated families with hereditary diffuse gastric cancer.