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- Title
Genome-wide discovery of circulating cell-free DNA methylation biomarkers for colorectal cancer detection.
- Authors
Fang, Qingxiao; Yuan, Ziming; Hu, Hanqing; Zhang, Weiyuan; Wang, Guiyu; Wang, Xishan
- Abstract
Background: Colorectal polyp is known a precursor of colorectal cancer (CRC) that holds an increased risk for progression to CRC. Circulating cell-free DNA (cfDNA) methylation has shown favorable performance in the detection and monitoring the malignant progression in a variety of cancers. Results: To discover cfDNA methylation markers for the diagnosis of CRC, we first performed a genome-wide analysis between eight CRC and eight polyp tissues using the Infinium HumanMethylationEPIC BeadChip. We identified 7008 DMCs, and after filtering, we validated 39 DMCs by MethylTarget sequencing in 62 CRC and 56 polyp tissues. A panel of four CpGs (cg04486886, cg06712559, cg13539460, and cg27541454) was selected as the methylation marker in tissue by LASSO and random forest models. A diagnosis prediction model was built based on the four CpGs, and the methylation diagnosis score (md-score) can effectively discriminate tissues with CRC from polyp patients (AUROC > 0.9). Finally, the cg27541454 was confirmed hypermethylated in CRC (AUC = 0.85) in the plasma validation cohort. Conclusions: Our findings suggest that the md-score could robustly detect CRC from polyp tissues, and cg27541454 may be a promising candidate noninvasive biomarker for CRC early diagnosis.
- Subjects
CELL-free DNA; DNA methylation; CIRCULATING tumor DNA; COLORECTAL cancer; EARLY detection of cancer; TUMOR markers; IRINOTECAN
- Publication
Clinical Epigenetics, 2023, Vol 15, Issue 1, p1
- ISSN
1868-7075
- Publication type
Article
- DOI
10.1186/s13148-023-01518-5