ORIGINAL RESEARCH article
Front. Oncol.
Sec. Gastrointestinal Cancers: Colorectal Cancer
Diagnostic Value of Multi-Gene Methylation in Colorectal Cancer Screening
Provisionally accepted
Qingyan Yang1
Liming Chen2*- 1Shantou University Medical College, Shantou, China
- 2The First Affiliated Hospital of Shantou University Medical College, Shantou, China
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Objective: To evaluate the diagnostic value and clinical application of multi-gene methylation assay in colorectal cancer (CRC) screening. Methods: This was a single-center, retrospective, real-world study conducted at the First Affiliated Hospital of Shantou University Medical College, China. A total of 450 participants were enrolled from January 2023 to December 2024, including 150 healthy individuals, 120 colorectal polyp patients, and 180 CRC patients. The methylation status of six plasma-derived loci (SEPT9-R1, SEPT9-R2, BCAT1, IKZF1, BCAN, and VAV3) was assessed using real-time multiplex quantitative PCR (qPCR). The diagnostic performance and predictive factors of the multi-gene methylation assay for CRC detection were assessed. Results: The multi-gene methylation assay effectively differentiated healthy controls, colorectal polyp patients, and CRC patients (P < 0.001), and methylation levels increased with advancing tumor stage. The combined panel demonstrated superior diagnostic accuracy over single-gene assays, yielding an AUC of 0.958 (95% CI: 0.934–0.982) in the training cohort and 0.952 (95% CI: 0.920–0.984) in the validation cohort. Multivariate analysis further identified tumor size (OR = 1.974, 95% CI: 1.321–2.950, P = 0.005) and TNM stage (OR = 2.117, 95% CI: 1.452–3.087, P = 0.002) as independent predictors of multi-gene methylation positivity. Conclusion: Multi-gene methylation detection showed high diagnostic value for CRC and may serve as a valuable adjunct tool in CRC screening strategies.
Keywords: colorectal cancer, Multi-gene, Methylation, screening, diagnostic value
Received: 05 Jul 2025; Accepted: 08 Dec 2025.
Copyright: © 2025 Yang and Chen. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Liming Chen
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