Pan-cancer analysis of m5C regulator genes reveals consistent epigenetic landscape changes in multiple cancers

World J Surg Oncol. 2021 Jul 29;19(1):224. doi: 10.1186/s12957-021-02342-y.

Abstract

Background: 5-Methylcytosine (m5C) 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 m5C 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 m5C regulatory genes were significantly correlated across many cancer types. We then assessed the correlation between the expression of individual m5C regulators and the activity of related hallmark pathways of cancers.

Results: After validating m5C 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 m5C 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 m5C regulators.

Keywords: 5-Methylcytosine; Frequent network mining; Pan-cancer analysis; Survival; m5C regulatory genes.

MeSH terms

  • 5-Methylcytosine
  • DNA Copy Number Variations*
  • DNA Methylation
  • Epigenesis, Genetic*
  • Gene Expression Regulation, Neoplastic
  • Genes, Regulator
  • Humans
  • Mutation
  • Neoplasms* / genetics
  • Prognosis

Substances

  • 5-Methylcytosine