Jiaqi Liu, Lijun Dai, Qiang Wang, Chenghao Li, Zhichao Liu, Tongyang Gong, Hengyi Xu, Ziqi Jia, Wanyuan Sun, Xinyu Wang, Minyi Lu, Tongxuan Shang, Ning Zhao, Jiahui Cai, Zhigang Li, Hongyan Chen, Jianzhong Su, Zhihua Liu
Detecting early-stage esophageal squamous cell carcinoma (ESCC) and precancerous lesions is critical for improving survival. Here, we conduct whole-genome bisulfite sequencing (WGBS) on 460 cfDNA samples from patients with non-metastatic ESCC or precancerous lesions and matched healthy controls. We develop an expanded multimodal analysis (EMMA) framework to simultaneously identify cfDNA methylation, copy number variants (CNVs), and fragmentation markers in cfDNA WGBS data. cfDNA methylation markers are the earliest and most sensitive, detectable in 70% of ESCCs and 50% of precancerous lesions, and associated with molecular subtypes and tumor microenvironments...
May 2, 2024: Nature Communications