The Evolving Genomic Landscape of Barrett's Esophagus and Esophageal Adenocarcinoma

Gastroenterology. 2017 Sep;153(3):657-673.e1. doi: 10.1053/j.gastro.2017.07.007. Epub 2017 Jul 14.

Abstract

We have recently gained unprecedented insight into genetic factors that determine risk for Barrett's esophagus (BE) and progression to esophageal adenocarcinoma (EA). Next-generation sequencing technologies have allowed us to identify somatic mutations that initiate BE and track genetic changes during development of tumors and invasive cancer. These technologies led to identification of mechanisms of tumorigenesis that challenge the current multistep model of progression to EA. Newer, cost-effective technologies create opportunities to rapidly translate the analysis of DNA into tools that can identify patients with BE at high risk for cancer, detect dysplastic lesions more reliably, and uncover mechanisms of carcinogenesis.

Keywords: Chromothripsis; Cytosponge; Esophagus; Genome-wide Association Study; Mutational Signature.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / drug therapy
  • Adenocarcinoma / genetics*
  • Barrett Esophagus / genetics*
  • Carcinogenesis / genetics*
  • DNA Copy Number Variations
  • Esophageal Neoplasms / diagnosis
  • Esophageal Neoplasms / drug therapy
  • Esophageal Neoplasms / genetics*
  • Genome-Wide Association Study
  • Germ-Line Mutation
  • Humans
  • Mutation*