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Abstract
This study investigates the use of DNA methylation alterations in peripheral blood mononuclear cells (PBMCs) as markers for early breast cancer (BC) detection. Four BC-specific methylation markers were identified using Infinium 850 K BeadChips, pyrosequencing, and targeted bisulfite sequencing. A multiplex methylation-specific quantitative PCR assay (BC-mqmsPCR) was developed based on these markers and validated in a multicenter cohort. The assay distinguished early-stage BC patients from controls with high accuracy (AUC of 0.940, sensitivity of 93.2%, and specificity of 90.4%), outperforming existing clinical methods, particularly in detecting early-stage and minimal tumors.
Publisher
Nature Communications
Published On
Aug 07, 2023
Authors
Tiantian Wang, Peilong Li, Qiuchen Qi, Shujun Zhang, Yan Xie, Jing Wang, Shibiao Liu, Suhong Ma, Shijun Li, Tingting Gong, Huiting Xu, Mengqiu Xiong, Guanghua Li, Chongge You, Zhaofan Luo, Juan Li, Lutao Du, Chuanxin Wang
Tags
DNA methylation
breast cancer
biomarkers
early detection
quantitative PCR
methylation markers

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