- Cao, Wei;
- Lee, Hayan;
- Wu, Wei;
- Zaman, Aubhishek;
- McCorkle, Sean;
- Yan, Ming;
- Chen, Justin;
- Xing, Qinghe;
- Sinnott-Armstrong, Nasa;
- Xu, Hongen;
- Sailani, M Reza;
- Tang, Wenxue;
- Cui, Yuanbo;
- liu, Jia;
- Guan, Hongyan;
- Lv, Pengju;
- Sun, Xiaoyan;
- Sun, Lei;
- Han, Pengli;
- Lou, Yanan;
- Chang, Jing;
- Wang, Jinwu;
- Gao, Yuchi;
- Guo, Jiancheng;
- Schenk, Gundolf;
- Shain, Alan Hunter;
- Biddle, Fred G;
- Collisson, Eric;
- Snyder, Michael;
- Bivona, Trever G
Epigenetic landscapes can shape physiologic and disease phenotypes. We used integrative, high resolution multi-omics methods to delineate the methylome landscape and characterize the oncogenic drivers of esophageal squamous cell carcinoma (ESCC). We found 98% of CpGs are hypomethylated across the ESCC genome. Hypo-methylated regions are enriched in areas with heterochromatin binding markers (H3K9me3, H3K27me3), while hyper-methylated regions are enriched in polycomb repressive complex (EZH2/SUZ12) recognizing regions. Altered methylation in promoters, enhancers, and gene bodies, as well as in polycomb repressive complex occupancy and CTCF binding sites are associated with cancer-specific gene dysregulation. Epigenetic-mediated activation of non-canonical WNT/β-catenin/MMP signaling and a YY1/lncRNA ESCCAL-1/ribosomal protein network are uncovered and validated as potential novel ESCC driver alterations. This study advances our understanding of how epigenetic landscapes shape cancer pathogenesis and provides a resource for biomarker and target discovery.