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Updated: Aug 6, 2026

An Integrated Platform for Genome-wide Mapping of Chromatin States Using High-throughput ChIP-sequencing in Tumor Tissues
Published on: April 5, 2018
Epigenetics: an emerging technology in the diagnosis and treatment of cancer
Justin Stebbing1, Mark Bower, Nelofer Syed
1St Bartholomew's Hospital, Department of Medical Oncology, London, UK.
Abstract:
Transcriptional silencing resulting from changes in epigenetic regulation of gene expression is the most frequent mechanism by which tumor suppressor genes are inactivated in human cancer. Genes participating in numerous functional groups and pathways leading to malignancy are subject to aberrant CpG methylation, with associated downregulation of expression, in human carcinogenesis. Methylation profiling can identify distinct subtypes of common human cancers and may have utility in predicting clinical phenotypes in individual patients, including sensitivity to chemotherapeutic agents. Hypomethylating agents have clinical activity in some hematological malignancies, and there is accumulating evidence correlating clinical response with demethylation and concomitant reactivation of expression of specific target genes. Epigenetic analysis is likely to have an increasingly important part to play in the diagnosis, prognostic assessment and treatment of malignant disease.
Insights
Epigenetic silencing of tumor suppressor genes via aberrant CpG methylation is common in human cancers. This methylation profiling can aid in cancer subtyping, predicting patient outcomes, and guiding treatment with hypomethylating agents.
Area of Science:
- Cancer Biology
- Epigenetics
- Molecular Oncology
Background:
- Transcriptional silencing of tumor suppressor genes is a frequent mechanism of inactivation in human cancer.
- Aberrant CpG methylation is associated with gene downregulation in carcinogenesis, affecting numerous cancer-related pathways.
Purpose of the Study:
- To explore the role of epigenetic regulation, specifically aberrant CpG methylation, in human cancer.
- To assess the utility of methylation profiling for cancer subtyping and predicting clinical phenotypes.
- To review the impact of hypomethylating agents in hematological malignancies.
Main Methods:
- Analysis of aberrant CpG methylation patterns in tumor suppressor genes.
- Methylation profiling for cancer subtyping and phenotype prediction.
- Review of clinical data on hypomethylating agents and gene expression reactivation.
Main Results:
- Aberrant CpG methylation frequently inactivates tumor suppressor genes in human cancer.
- Methylation profiling can distinguish cancer subtypes and predict clinical outcomes, including chemotherapy sensitivity.
- Hypomethylating agents show clinical activity in hematological malignancies, correlating with demethylation and gene re-expression.
Conclusions:
- Epigenetic alterations, particularly aberrant CpG methylation, are central to cancer development.
- Methylation profiling offers potential for improved cancer diagnosis, prognosis, and personalized treatment strategies.
- Epigenetic analysis is poised to play a significant role in the future management of malignant diseases.
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