Pan-cancer analysis of m(5)C regulator genes reveals consistent epigenetic landscape changes in multiple cancers

BACKGROUND: 5-Methylcytosine (m(5)C) is a reversible modification to both DNA and various cellular RNAs. However, its roles in developing human cancers are poorly understood, including the effects of mutant m(5)C regulators and the outcomes of modified nucleobases in RNAs. METHODS: Based on The Cancer Genome Atlas (TCGA) database, we uncovered that mutations and copy number variations (CNVs) of m(5)C regulatory genes were significantly correlated across many cancer types. We then assessed the correlation between the expression of individual m(5)C regulators and the activity of related hallmark pathways of cancers. RESULTS: After validating m(5)C regulators’ expression based on their contributions to cancer development and progression, we observed their upregulation within tumor-specific processes. Notably, our research connected aberrant alterations to m(5)C regulatory genes with poor clinical outcomes among various tumors that may drive cancer pathogenesis and/or survival. CONCLUSION: Our results offered strong evidence and clinical implications for the involvement of m(5)C regulators. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12957-021-02342-y.