Familial Barrett’s Esophagus and Esophageal Adenocarcinoma

Abstract

To examine the evidence for Familial Barrett’s Esophagus and Esophageal Adenocarcinoma and putative causative genes. Recent large population studies continue to provide evidence for Familial Barrett’s Esophagus and Esophageal Adenocarcinoma. Also, based on sequencing of two multigenerational families with Barrett’s esophagus and/or esophageal adenocarcinoma, two new possible causative gene variants have been identified including VSIG10L and MSX1. Familial Barrett’s esophagus and esophageal adenocarcinoma is increasingly becoming more recognized. Current guidelines also now incorporate family history as a risk factor for Barrett’s esophagus. Recent studies include DNA sequencing of multigenerational families in addition to previously performed GWAS studies. Several new gene variants now have been identified; however, phenotypic and mechanistic studies need to be performed to demonstrate their association with Barrett’s esophagus and esophageal adenocarcinoma.