DNA Methylation Mechanisms in Colorectal Cancer
Summary
DNA methylation is a key epigenetic modification in which methyl groups are added to cytosine bases within CpG dinucleotides. In colorectal cancer, aberrant methylation patterns emerge early in tumourigenesis and drive silencing of tumour suppressor genes, disruption of DNA repair pathways and altered chromatin structure. Two principal methylation changes are recognised: focal hypermethylation at CpG islands in gene promoters, leading to transcriptional repression of key regulatory genes, and global hypomethylation across the genome, which contributes to chromosomal instability and activation of transposable elements. A distinctive subgroup of colorectal cancers shows a CpG island methylator phenotype (CIMP), characterised by widespread promoter hypermethylation accompanied by microsatellite instability and BRAF mutations. DNA methyltransferases (DNMT1, DNMT3A and DNMT3B) and demethylating enzymes coordinate the dynamic maintenance and removal of methyl marks, and their dysregulation underlies the heterogeneous methylomic landscapes observed in tumours. Clinical applications include methylation markers for early detection in plasma or stool assays, prognostic classifiers based on methylation signatures and emerging epigenetic therapies targeting DNMTs. Ongoing research is elucidating how age-associated drift in methylation, environmental exposures and metabolic states influence colorectal cancer risk and progression, promising improved stratification and personalised interventions.
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DNA Methylation Mechanisms in Colorectal Cancer publication trend
The graph below shows the total number of articles in dna methylation mechanisms in colorectal cancer across all publications each year (not limited to Nature Index journals).
Technical terms
DNA methylation: Covalent attachment of a methyl group to the 5-carbon of cytosine, often regulating gene expression.
CpG island: A genomic region rich in CpG dinucleotides, frequently located at gene promoters and normally unmethylated.
Global hypomethylation: Widespread loss of methyl groups across the genome, associated with genomic instability.
CpG island methylator phenotype (CIMP): A colorectal cancer subtype defined by concurrent hypermethylation of multiple gene promoters.
DNA methyltransferases (DNMTs): Enzymes that establish and maintain DNA methylation patterns.
LINE-1 elements: Long interspersed nucleotide repeats used as a surrogate marker for global methylation levels.
References
- DNA Methylation Signatures and the Contribution of Age-Associated Methylomic Drift to Carcinogenesis in Early-Onset Colorectal Cancer. Cancers (2021).
- Tumor Long Interspersed Nucleotide Element-1 (LINE-1) Hypomethylation in Relation to Age of Colorectal Cancer Diagnosis and Prognosis. Cancers (2021).
- Epigenetics and Colorectal Cancer Pathogenesis. Cancers (2013).
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