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Updated: Jul 1, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Application of DNA methylation biomarkers for endometrial cancer management
Shi-Wen Jiang1, Jinping Li, Karl Podratz
1Department of Biomedical Science, Mercer University School of Medicine at Savannah, 4700, Waters Avenue, Savannah, GA 31404, USA. jiang_s@mercer.edu
Abstract:
It has become clear that aberrant gene expression, via alterations in promoter methylation or histone acetylation, is a contributing factor for carcinogenesis, perhaps as important as genetic mutation. This is particularly evident in endometrial cancer, in which multiple genes are silenced through hypermethylation. In this review, we discuss the field of epigenetics and relevant techniques to characterize methylation and acetylation alterations. The CpG island methylator phenotype, epimutations and the effects of aging on methylation are also discussed. In endometrial cancer there is evidence that hypermethylation of relevant genes can be reversed using epigenetic inhibitors, resulting in re-expression of silenced genes. Preliminary data also suggest that a panel of methylation biomarkers could be useful for diagnosis and even screening in selected populations at high risk. This disease is particularly well suited for such a strategy given that the endometrium is readily accessible for testing and endometrial cancer precursors are well defined.
Insights
Epigenetic alterations like DNA methylation and histone acetylation drive cancer, particularly endometrial cancer. Reversing these epigenetic changes shows promise for gene re-expression, diagnosis, and screening.
Area of Science:
- Epigenetics and Molecular Oncology
Background:
- Aberrant gene expression through epigenetic modifications (promoter methylation, histone acetylation) is a key factor in carcinogenesis, comparable to genetic mutations.
- Endometrial cancer frequently exhibits gene silencing via promoter hypermethylation, highlighting the role of epigenetics in this malignancy.
Purpose of the Study:
- To review the field of epigenetics, focusing on methylation and acetylation alterations relevant to cancer.
- To discuss the potential of epigenetic therapies and biomarkers for endometrial cancer diagnosis and treatment.
Main Methods:
- Review of current literature on epigenetic mechanisms in carcinogenesis.
- Discussion of techniques for characterizing DNA methylation and histone acetylation.
- Exploration of the CpG island methylator phenotype, epimutations, and aging effects on methylation.
Main Results:
- Evidence suggests that hypermethylation-induced gene silencing in endometrial cancer can be reversed by epigenetic inhibitors, leading to gene re-expression.
- Preliminary data indicate that methylation biomarkers may aid in the diagnosis and screening of high-risk populations for endometrial cancer.
Conclusions:
- Epigenetic alterations are significant contributors to endometrial cancer development.
- Epigenetic therapies offer a potential strategy for reversing gene silencing and treating endometrial cancer.
- Methylation biomarkers hold promise for early detection and risk stratification in endometrial cancer.

