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Updated: May 14, 2026

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
07:50

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

Genomic insights into cancer-associated aberrant CpG island hypermethylation

Duncan Sproul1, Richard R Meehan

  • 1Duncan.Sproul@igmm.ed.ac.uk

Briefings in Functional Genomics
|January 24, 2013
PubMed

Insights

Cancer cell DNA shows global hypomethylation and CpG island hypermethylation. Aberrant hypermethylation of CpG islands (CGIs) may silence tumor suppressor genes, but most CGI genes are silenced before this occurs.

Area of Science:

  • Epigenetics and Cancer Biology
  • Genomics and Molecular Oncology

Background:

  • Carcinogenesis involves mutational and epimutational events disrupting cellular growth.
  • Cancer DNA methylomes differ from normal, showing global hypomethylation and aberrant CpG island (CGI) hypermethylation.
  • Aberrant CGI hypermethylation is hypothesized to silence tumor suppressor genes, driving cancer.

Purpose of the Study:

  • To review the current understanding of aberrant CGI hypermethylation in cancer.
  • To analyze global cancer methylome data regarding CGI gene silencing.
  • To discuss mechanisms underlying aberrant CGI hypermethylation.

Main Methods:

  • Review of current literature on cancer methylomes.
  • Analysis of genome-scale data from normal and cancer cells.
  • Focus on global methylation patterns and CGI status.

Main Results:

  • Global analysis indicates most affected CGI genes are silenced before aberrant hypermethylation.
  • Aberrant hypermethylation is not the primary driver of silencing for most CGI genes in cancer.
  • Genome-scale analyses refine understanding of aberrant CGI hypermethylation mechanisms.

Conclusions:

  • The role of aberrant CGI hypermethylation in tumor suppressor gene silencing requires re-evaluation.
  • Most CGI genes are silenced prior to hypermethylation during cancer development.
  • Further research is needed to elucidate the precise mechanisms of aberrant CGI hypermethylation.
Keywords:
CpG islandsDNA methylationcancerepigeneticsepigenomics

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