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Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Novel candidate colorectal cancer biomarkers identified by methylation microarray-based scanning
Yuriko Mori1, Alexandru V Olaru, Yulan Cheng
1Division of Gastroenterology, Department of Medicine, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, Maryland 21205, USA. ymori3@jhmi.edu
Endocrine-Related Cancer
|June 4, 2011
Summary
Novel DNA hypermethylation events in colorectal cancer (CRC) tissues were identified. These epigenetic biomarkers show promise for discriminating CRC patients from healthy individuals in future screening studies.
Area of Science:
- Epigenetics and Cancer Genomics
- Molecular Diagnostics and Biomarker Discovery
Background:
- DNA hypermethylation is a hallmark of colorectal cancer (CRC) and a potential source for screening biomarkers.
- Identifying novel, neoplasia-specific hypermethylation events is crucial for improving CRC detection.
Purpose of the Study:
- To conduct a genome-wide search for novel hypermethylation events specific to colorectal cancer.
- To evaluate the diagnostic potential of identified hypermethylation events in discriminating neoplastic from non-neoplastic colonic tissues.
Main Methods:
- Genome-wide methylation microarray analysis was performed on 17 primary CRCs and 8 non-neoplastic colonic mucosae (NCs).
- Candidate hypermethylation loci were validated using quantitative methylation-specific PCR (qMSP) in 113 colonic tissue samples.
- Receiver operator characteristic (ROC) curve analysis was used to assess the discriminative accuracy of methylation events.
Main Results:
- 169 candidate CRC-associated hypermethylation events were identified, with 10 showing significant discriminative ability between CRCs and control NCs.
- Visual system homeobox 2 (VSX2) methylation demonstrated high accuracy (83.3% sensitivity, 92.3% specificity) in distinguishing CRCs.
- Several methylation events, including VSX2, BEN domain containing 4 (BEND4), and neuronal pentraxin I (NPTX1), also differentiated adenomas from control NCs.
Conclusions:
- Systematic methylome-wide analysis has identified ten novel methylation events in colorectal neoplasia.
- These novel epigenetic markers significantly discriminate CRC patients from controls and warrant further investigation for non-invasive CRC detection.
- Specific methylation events were also found in non-neoplastic mucosa from CRC patients, suggesting potential early detection capabilities.
