Methylation analysis of plasma cell-free DNA for breast cancer early detection using bisulfite next-generation sequencing

摘要: Circulating cell-free DNA (cfDNA) has been considered as a potential biomarker for non-invasive cancer detection. To evaluate the methylation levels of six candidate genes (EGFR, GREM1, PDGFRB, PPM1E, SOX17, and WRN) in plasma cfDNA biomarkers breast early detection, quantitative analysis promoter these from 86 patients 67 healthy controls was performed by using microfluidic-PCR-based target enrichment next-generation bisulfite sequencing technology. The predictive performance different logistic models based on status investigated means area under ROC curve (AUC) odds ratio (OR) analysis. Results revealed that EGFR, 8 gene-specific CpG sites showed significantly hypermethylation patients' associated with (OR ranging 2.51 to 9.88). AUC values were 0.66 0.75. Combinations multiple hypermethylated or substantially improved Our study demonstrated feasibility measurement gene sequencing, which is worthy further validation potentially benefits broad range applications clinical oncology practice. Quantitative pattern might be valuable tool detection cancer.