DNA methylation is one of the best-characterized epigenetic mechanisms, playing a crucial role in regulating various biological processes, including embryonic development, genomic imprinting, X-chromosome inactivation, and gene expression. Conversely, dysregulation of DNA methylation represents a cancer-associated epigenetic hallmark, contributing to the activation of oncogenes and the silencing of tumor suppressor genes. Recently, aberrant DNA methylation has also been reported to be closely linked to tumor microenvironment remodeling, metabolic adaptation of cancer cells, drug resistance mechanisms, and immune response. Nevertheless, further efforts are required to fully establish DNA methylation as a reliable cancer biomarker and therapeutic target in clinical settings.

This Research Topic aims to provide a comprehensive overview of DNA methylation as a key epigenetic mechanism driving tumor initiation and progression. The primary goal is to bring together cutting-edge research focused on aberrant DNA methylation and its impact on the expression of cancer-related genes, while exploring the translational significance of DNA methylation hotspots as epigenetic biomarkers in clinical oncology. Recent advancements on high-throughput technologies and bioinformatic tools for the identification of Differentially Methylated Regions (DMRs) will also be discussed. Another key focus of this Research Topic is represented by the emerging therapeutic strategies that target DNA methylation, including DNA methyltransferase (DNMT) inhibitors and epigenome editing, such as the Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas9 system. These innovative approaches collectively hold great promise for the development of effective therapeutic options, both as monotherapies and in combination with standard treatments.

We welcome submissions of Original Research, Clinical Trials, Methods, Review, Mini Review, and Perspective articles addressing, but not limited to, the following themes:
• The role of DNA methylation in the regulation of oncogenes and tumor suppressor genes;
• The clinical value of DNA methylation hotspots as diagnostic, prognostic, and predictive cancer biomarkers;
• High-throughput technologies for the identification of DNA methylation hotspots in both tissue and liquid biopsy samples;
• Aberrant DNA methylation and remodeling of the tumor microenvironment;
• The interplay between DNA methylation and the immune response;
• Epidrugs and personalized medicine.
Please note that manuscripts consisting solely of bioinformatics or computational analysis of public omics databases, without relevant functional validation (clinical cohort or biological validation, in vitro or in vivo) are out of scope of this Research Topic.

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Epigenetics in cancer: DNA methylation as a biomarker and therapeutic target