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Updated: Oct 26, 2025

An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues
Published on: April 5, 2018
Pan-cancer analysis of m5C regulator genes reveals consistent epigenetic landscape changes in multiple cancers
Yuting He1,2,3,4, Xiao Yu5,6,7,8, Menggang Zhang5,6,7,8
1Department of Hepatobiliary and Pancreatic Surgery, The First Affiliated Hospital of Zhengzhou University, No.1 Jianshe Road, Zhengzhou, 450052, China. fccheyt1@zzu.edu.cn.
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.
Insights
Mutations in 5-methylcytosine (m5C) regulators are linked to cancer development and poor patient outcomes. Understanding these m5C alterations is crucial for cancer research.
Area of Science:
- Epigenetics and Cancer Biology
- RNA and DNA Modifications
Background:
- 5-Methylcytosine (m5C) is a critical reversible epigenetic modification in DNA and RNA.
- The role of m5C modifications and their regulators in human cancer remains largely undefined.
- Understanding m5C dysregulation is essential for cancer pathogenesis and progression insights.
Purpose of the Study:
- To investigate the correlation between m5C regulatory gene alterations and cancer development.
- To assess the impact of m5C regulator expression on cancer hallmark pathways.
- To determine the clinical significance of m5C regulator alterations in human tumors.
Main Methods:
- Utilized The Cancer Genome Atlas (TCGA) database for comprehensive analysis.
- Analyzed mutations and copy number variations (CNVs) in m5C regulatory genes across diverse cancer types.
- Correlated m5C regulator expression with the activity of cancer hallmark pathways.
Main Results:
- Identified significant correlations between m5C gene mutations/CNVs and various cancer types.
- Observed upregulation of m5C regulators in tumor-specific processes, linking them to cancer progression.
- Demonstrated that aberrant alterations in m5C regulatory genes are associated with poor clinical outcomes in multiple cancers.
Conclusions:
- Provided strong evidence for the involvement of m5C regulators in cancer pathogenesis and survival.
- Highlighted the clinical implications of m5C regulator alterations, suggesting their potential as biomarkers or therapeutic targets.
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