The evolving genomic landscape of Barrett's esophagus and esophageal adenocarcinoma

Gianmarco Contino, Thomas L Vaughan, David Whiteman, Rebecca C Fitzgerald

Research output: Contribution to journalReview articlepeer-review

35 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)657-673.e1
Number of pages18
Issue number3
Early online date14 Jul 2017
Publication statusPublished - Sept 2017

Bibliographical note

Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.


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


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