AB043. SOH24AB_263. CDH-1 mutation carriers: an institutional experience

Background: Gastric cancer is the third leading cause of cancer deaths worldwide. Most cases are sporadic, with 10% demonstrating familial clustering. Of these, 1–3% arise from inherited cancer syndromes. Hereditary diffuse gastric cancer was first described in 1964 in 3 Māori families from New Zealand. In 1998, Guilford et al. discovered a that these families carry a germline mutation in the tumour suppresser gene CDH1, encoding E-cadherin. Germline loss of E-cadherin expression increases the lifetime risk of developing diffuse gastric cancer and lobular breast cancer. The 2020 guidelines from the International Gastric Cancer Linkage Consortium recommend prophylactic total gastrectomy as the definitive intervention in individuals carrying the CDH1 mutation. In individuals not undergoing prophylactic total gastrectomy, endoscopic surveillance is recommended using the Cambridge protocol.