Novel methylated DNA markers accurately discriminate Lynch syndrome associated colorectal neoplasia

Acquired molecular changes in Lynch syndrome (LS) colorectal tumors have been largely unstudied. We identified methylated DNA markers (MDMs) for discrimination of colorectal neoplasia in LS and determined if these MDMs were comparably discriminant in sporadic patients. For LS discovery, we evaluated...

Full description

Saved in:
Bibliographic Details
Published in:Epigenomics 2020-12, Vol.12 (24), p.2173-2187
Main Authors: Ballester, Veroushka, Taylor, William R, Slettedahl, Seth W, Mahoney, Douglas W, Yab, Tracy C, Sinicrope, Frank A, Boland, Clement R, Lidgard, Graham P, Cruz-Correa, Marcia R, Smyrk, Thomas C, Boardman, Lisa A, Ahlquist, David A, Kisiel, John B
Format: Article
Language:English
Subjects:
Archives & records
biomarkers
Candidates
Colonoscopy
Colorectal cancer
colorectal neoplasms
colorectal physiology
colorectal prevention and control
Deoxyribonucleic acid
DNA
DNA methylation
DNA sequencing
Genes
Genetic disorders
Genetic testing
Genomics
hereditary nonpolyposis
Markers
Neoplasia
Neoplasms
Next-generation sequencing
Ovarian cancer
Prostate cancer
Surveillance
Tumors
Urogenital system
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Acquired molecular changes in Lynch syndrome (LS) colorectal tumors have been largely unstudied. We identified methylated DNA markers (MDMs) for discrimination of colorectal neoplasia in LS and determined if these MDMs were comparably discriminant in sporadic patients. For LS discovery, we evaluated DNA from 53 colorectal case and control tissues using next generation sequencing. For validation, blinded methylation-specific PCR assays to the selected MDMs were performed on 197 cases and controls. was the most discriminant MDM with areas under the receiver operating characteristic curve ≥0.97 for colorectal neoplasia in LS and sporadic tissues. , was uniquely hypermethylated in LS neoplasms. Highly discriminant MDMs for colorectal neoplasia in LS were identified with potential use in screening and surveillance.
ISSN:1750-1911
1750-192X
DOI:10.2217/epi-2020-0132