Endoscopic Ultrasound Has Limited Utility in Diagnosis of Gastric Cancer in Carriers of CDH1 Mutations

Abstract

A total of 1%-3% of gastric cancers are related to hereditary syndromes, including hereditary diffuse gastric cancer syndrome (HDGC), which is characterized by pathogenic variants of the CDH1 gene and a high risk of lifetime incidence of both diffuse gastric cancer (DGC) and lobular breast cancer.^1,2 HDGC is suspected in families with DGC or lobular breast cancer, especially when either is diagnosed before 50 years of age or when present in multiple family members.³ As individuals with HDGC have up to a 70% lifetime risk of DGC, prophylactic total gastrectomy is recommended.^1,2 For patients who defer surgery, annual endoscopic surveillance via the Cambridge protocol is recommended, comprising biopsies of any lesions and a minimum of 30 random biopsies from the antrum, transitional zone, body, fundus, and cardia.¹.