Related Experiment Video
Updated: May 1, 2026
Comprehensive DNA Methylation Analysis Using a Methyl-CpG-binding Domain Capture-based Method in Chronic Lymphocytic Leukemia Patients
Published on: June 16, 2017
A novel methylation marker on the CLEC14A gene for cervical cancer screening
Sixian Wang1,2, Hao Xiao3, Huafang Gao1,2
1Graduate School of Peking Union Medical College, Beijing, China.
Introduction:
Despite advancements in cervical cancer early detection, such as HPV screening, their inherent limitations, such as unsatisfactory specificity, necessitate the discovery of novel, highly accurate biomarkers for cervical cancer and its precancerous high-grade squamous intraepithelial lesions (HSILs).
Methods:
In this study, we identified a novel methylation marker, the cg05057720 site within the CLEC14A gene, through an initial analysis of The Cancer Genome Atlas (TCGA) and independent validation in the GSE46306 dataset. The marker's clinical utility was further evaluated using the Quantitative Amplification of Specific Methylation (QASM) assay across a comprehensive cohort of 431 participants, including normal (n=130), LSIL (n=83), HSIL (n=195), and tumor samples (n=23).
Results:
We observed a progressive increase in CLEC14A cg05057720 methylation correlating with lesion severity, where median levels were 0% in normal samples, 2.9% in LSIL, 25.7% in HSIL, and 48.6% in tumors. In receiver-operating characteristic (ROC) analysis, the marker demonstrated exceptional diagnostic performance, achieving a sensitivity of 100% and a specificity of 95.3% for the detection of HSIL and invasive cancer in the validation cohort.
Discussion:
This proof-of-concept work establishes CLEC14A cg05057720 as a sensitive and specific epigenetic biomarker, providing a robust theoretical basis for utilizing this marker to improve risk stratification and reduce unnecessary tests and treatments, though future large-scale multi-center prospective validations are warranted to further confirm these findings.
