ArticleNucleic acids research2017
The interaction between cytosine methylation and processes of DNA replication and repair shape the mutational landscape of cancer genomes.
Article in Nucleic acids research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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55 citing papers in PubMed.
- Investigating the role of CpG islands and DNA methylation at 3'UTRs in cancer.Life science alliance · 2026Article
- Detection of germline variants in human population chronically exposed to high level natural background radiation in Kerala coast.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2026Article
- Patterns of hypermutation shape tumorigenesis and immunotherapy response in mismatch-repair-deficient glioma.Nature genetics · 2026Article
- Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers.Genome medicine · 2025Article
- Article
- Western diet-induced visceral adipose tissue inflammation promotes Alzheimer's disease pathology via microglial activation in a mouse model.Frontiers in aging neuroscience · 2025Article
- Multiomics analysis reveals signatures of selection and loci associated with complex traits in pigs.iMeta · 2024Article
- Human DNA polymerase ε is a source of C>T mutations at CpG dinucleotides.Nature genetics · 2024Article
- ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.Cell genomics · 2024Article
- Comparison of genetic and epigenetic profiles of periodontitis according to the presence of type 2 diabetes.MedComm · 2024Article
- Mutation rate heterogeneity at the sub-gene scale due to local DNA hypomethylation.Nucleic acids research · 2024Article
- Mitochondria: the epigenetic regulators of ovarian aging and longevity.Frontiers in endocrinology · 2024Review
- Germline mutation rate is elevated in young and old parents inEvolution letters · 2023Article
- Single-Cell Analysis in theGenes · 2023Review
- DNA Glycosylases Define the Outcome of Endogenous Base Modifications.International journal of molecular sciences · 2023Review
- High Nucleotide Diversity Accompanies Differential DNA Methylation in Naturally Diverging Populations.Molecular biology and evolution · 2023Article
- Characterization of a Novel Thermostable DNA Lyase Used To Prepare DNA for Next-Generation Sequencing.Chemical research in toxicology · 2023Article
- Review
- Identification of key somatic oncogenic mutation based on a confounder-free causal inference model.PLoS computational biology · 2022Article
- The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex.Epigenetics & chromatin · 2022Article
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3 authors.
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Abstract
Methylated cytosines (5mCs) are frequently mutated in the genome. However, no studies have yet comprehensively analysed mutation-methylation associations across cancer types. Here we analyse 916 cancer genomes, together with tissue type-specific methylation and replication timing data. We describe a strong mutation-methylation association across colorectal cancer subtypes, most interestingly in samples with microsatellite instability (MSI) or Polymerase epsilon (POLE) exonuclease domain mutations. By analysing genomic regions with differential mismatch repair (MMR) efficiency, we suggest a possible role for MMR in the correction of 5mC deamination events, potentially accounting for the high rate of 5mC mutation accumulation in MSI tumours. Additionally, we propose that mutant POLE asserts a mutator phenotype specifically at 5mCs, and we find coding mutation hotspots in POLE-mutant cancers at highly-methylated CpGs in the tumour-suppressor genes APC and TP53. Finally, using multivariable regression models, we demonstrate that different cancers exhibit distinct mutation-methylation associations, with DNA repair influencing such associations in certain cancer genomes. Taken together, we find differential associations with methylation that are vital for accurately predicting expected mutation loads across cancer types. Our findings reveal links between methylation and common mutation and repair processes, with these mechanisms defining a key part of the mutational landscape of cancer genomes.
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