AI Article Synopsis

  • This study aimed to evaluate the effectiveness of cell-free DNA (cfDNA) methylation in detecting colorectal cancer (CRC) through whole-genome bisulfite sequencing (WGBS) and subsequent analysis of DNA methylation patterns.
  • Researchers collected samples from CRC patients and healthy controls, identifying 132 differentially methylated regions (DMRs) in cfDNA that could serve as potential biomarkers for CRC diagnosis.
  • The combination of three specific DMRs achieved an area under the curve (AUC) of 0.763, indicating moderate sensitivity (64.21%) and specificity (78.38%) for distinguishing CRC patients from healthy individuals, highlighting the need for further validation in larger studies.

Article Abstract

This study was conducted with the primary objective of assessing the performance of cfDNA methylation in the detection of colorectal cancer (CRC). Five tumor tissue, 20 peripheral blood leucocyte, and 169 cfDNA samples were collected for whole-genome bisulfite sequencing (WGBS) analysis. Bioinformatic analysis was conducted to identify differentially methylated regions (DMRs) and their functional characteristics. Quantitative methylation-specific PCR (qMSP) was used to validate the methylation levels of DMRs in the tissues and leucocytes. cfDNA samples from CRC patients and healthy controls were used to evaluate the performance of the DMR analysis. WGBS analysis revealed a decrease in DNA methylation levels in the CpG context in CRC tumor tissues compared with adjacent normal tissues. A total of 132 DMRs in cfDNA were identified as potential markers for diagnosing CRC. In a cohort of 95 CRC patients and 74 healthy controls, a combination of the three DMRs (, , and ) yielded an AUC of 0.763, achieving 64.21% sensitivity and 78.38% specificity in discriminating CRC patients from healthy controls. This study provides insights into DNA methylation patterns in CRC and identifies a set of DMRs in cfDNA with potential diagnostic value for CRC. These DMRs hold promise as biomarkers for CRC detection, offering promise for non-invasive CRC diagnosis. Further research is warranted to validate these findings in larger cohorts.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11353097PMC
http://dx.doi.org/10.3390/biom14080996DOI Listing

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