Epigenetics and Chromatin Remodeling in the Pathogenesis of Human Disease

This chapter examines the increasingly recognized contribution of epigenetic dysregulation — including aberrant DNA methylation, histone modification, chromatin remodeling, and non-coding RNA–mediated gene silencing — to the pathogenesis of cancer, developmental disorders, and complex multifactorial diseases. It reviews landmark discoveries in cancer epigenomics, including the identification of CpG island methylator phenotypes and recurrent mutations in chromatin-modifying genes such as DNMT3A, EZH2, and TET2, situating these findings within a broader framework of gene–environment interactions and epigenetic inheritance. The chapter further discusses the translational potential of epigenetic biomarkers and the growing therapeutic landscape of epigenetic drugs in clinical oncology.