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Updated: Jun 6, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Dissecting DNA hypermethylation in cancer
Marcos R H Estécio1, Jean-Pierre J Issa
1Department of Leukemia, UT MD Anderson Cancer Center, Houston, TX 77030, United States. mestecio@mdanderson.org
Abstract:
There is compelling evidence to support the importance of DNA methylation alterations in cancer development. Both losses and gains of DNA methylation are observed, thought to contribute pathophysiologically by inactivating tumor suppressor genes, inducing chromosomal instability and ectopically activating gene expression. Lesser known are the causes of aberrant DNA methylation. Recent studies have pointed out that intrinsic gene susceptibility to DNA methylation, environmental factors and gene function all have an intertwined participation in this process. Overall, these data support a deterministic rather than a stochastic mechanism for de novo DNA methylation in cancer. In this review article, we discuss the technologies available to study DNA methylation and the endogenous and exogenous factors that influence the onset of de novo methylation in cancer.
Insights
DNA methylation alterations are crucial in cancer, with both gains and losses impacting gene expression. Aberrant DNA methylation arises from a deterministic process involving gene susceptibility, environmental factors, and gene function.
Area of Science:
- Epigenetics
- Cancer Biology
- Genomics
Background:
- DNA methylation alterations are hallmarks of cancer development.
- Aberrant DNA methylation contributes to tumorigenesis by affecting tumor suppressor genes and gene expression.
- The causes of aberrant DNA methylation are complex and multifactorial.
Purpose of the Study:
- To review the technologies used to study DNA methylation.
- To explore the endogenous and exogenous factors influencing de novo DNA methylation in cancer.
- To discuss the deterministic mechanisms underlying aberrant DNA methylation in cancer.
Main Methods:
- Review of current literature on DNA methylation technologies.
- Analysis of studies investigating factors influencing DNA methylation.
- Synthesis of evidence supporting deterministic mechanisms in cancer epigenetics.
Main Results:
- Various technologies exist for studying DNA methylation patterns.
- Intrinsic gene susceptibility, environmental factors, and gene function interplay to cause aberrant methylation.
- Evidence suggests a deterministic, rather than stochastic, mechanism for de novo DNA methylation in cancer.
Conclusions:
- Understanding the causes of aberrant DNA methylation is critical for cancer research.
- The interplay of genetic and environmental factors highlights the complexity of epigenetic regulation in cancer.
- Future research should focus on elucidating these deterministic mechanisms to develop targeted cancer therapies.
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