ArticleNature biotechnology2014
Reduced local mutation density in regulatory DNA of cancer genomes is linked to DNA repair.
Article in Nature biotechnology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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Who cites it
84 citing papers in PubMed.
- Genes shielded, repeats exposed: mutation bias in the midge Chironomus riparius.G3 (Bethesda, Md.) · 2026Article
- Sequence context and methylation interact to shape germline mutation rate variation at CpG sites.PLoS genetics · 2026Article
- Sequence context and methylation interact to shape germline mutation rate variation at CpG sites.bioRxiv : the preprint server for biology · 2026Article
- Nanorate sequencing reveals theProceedings of the National Academy of Sciences of the United States of America · 2025Article
- A telomere-to-telomere map of somatic mutation burden and functional impact in cancer.bioRxiv : the preprint server for biology · 2025Article
- Learning the cellular origins across cancers using single-cell chromatin landscapes.Nature communications · 2025Article
- Landscape of human protein-coding somatic mutations across tissues and individuals.bioRxiv : the preprint server for biology · 2025Article
- ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.Cell genomics · 2024Article
- Mechanistic analysis of enhancer sequences in the estrogen receptor transcriptional program.Communications biology · 2024Article
- Mutation rate heterogeneity at the sub-gene scale due to local DNA hypomethylation.Nucleic acids research · 2024Article
- Cell cycle gene alterations associate with a redistribution of mutation risk across chromosomal domains in human cancers.Nature cancer · 2024Article
- Hotspot propensity across mutational processes.Molecular systems biology · 2024Article
- Functional analysis of recurrent CDC20 promoter variants in human melanoma.Communications biology · 2023Article
- Glycidamide-induced hypermutation in yeast single-stranded DNA reveals a ubiquitous clock-like mutational motif in humans.Nucleic acids research · 2023Article
- Dr.Nod: computational framework for discovery of regulatory non-coding drivers in tissue-matched distal regulatory elements.Nucleic acids research · 2023Article
- COOBoostR: An Extreme Gradient Boosting-Based Tool for Robust Tissue or Cell-of-Origin Prediction of Tumors.Life (Basel, Switzerland) · 2022Article
- Pan-cancer analysis of mutations in open chromatin regions and their possible association with cancer pathogenesis.Cancer medicine · 2022Article
- The shaping of cancer genomes with the regional impact of mutation processes.Experimental & molecular medicine · 2022Article
- The impact of rare germline variants on human somatic mutation processes.Nature communications · 2022Article
- Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy.Clinical science (London, England : 1979) · 2022Article
24 more citing papers are in PubMed but not listed here.
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11 authors.
Funding
Abstract
Carcinogenesis and neoplastic progression are mediated by the accumulation of somatic mutations. Here we report that the local density of somatic mutations in cancer genomes is highly reduced specifically in accessible regulatory DNA defined by DNase I hypersensitive sites. This reduction is independent of any known factors influencing somatic mutation density and is observed in diverse cancer types, suggesting a general mechanism. By analyzing individual cancer genomes, we show that the reduced local mutation density within regulatory DNA is linked to intact global genome repair machinery, with nearly complete abrogation of the hypomutation phenomenon in individual cancers that possess mutations in components of the nucleotide excision repair system. Together, our results connect chromatin structure, gene regulation and cancer-associated somatic mutation.
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