CDH1 is currently the only gene in which mutations are known to cause hereditary diffuse gastric cancer (HDGC). Hereditary diffuse gastric cancer is defined as a syndrome of inherited predisposition to cancer with autosomal dominant inheritance pattern. Specific criteria are used to identify patients with suspected HDGC and who should be investigated for CDH1 germline mutations. Accurate screening is mandatory for unaffected carriers ofCDH1 mutations and selected high-risk individuals could be considered for prophylactic gastrectomy.
