Discovery and Validation of Molecular Biomarkers for Differentiation of Nondysplastic Barrett's Esophagus from High-grade Dysplasia and Esophageal Adenocarcinoma.

ABSTRACT: Aberrant DNA methylation and copy-number alterations (CNA) drive Barrett's esophagus progression to esophageal adenocarcinoma; however, their combined utility for early detection is unclear. We aimed to identify and validate methylated DNA markers (MDM) and CNAs to distinguish esophageal adenocarcinoma/high-grade dysplasia (HGD) from nondysplastic Barrett's esophagus (NDBE). In this multiphase, multicenter study, we discovered and validated MDMs and quantified CNAs utilizing whole-genome methylation sequencing of esophageal brushings. DNA biomarkers identified from discovery were further validated in independent patients with paired esophageal brushing and swallowed capsule sponge samples. MDMs were filtered against a reduced representation bisulfite sequencing dataset obtained from indepe

SUBMITTER: Matchett CL 

PROVIDER: S-EPMC12770938 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature