ArticleNature communications2022
Association of mutation signature effectuating processes with mutation hotspots in driver genes and non-coding regions.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Hyper-mutational processes provide a head-start for weak cancer drivers: Explaining atypical KRAS variants.PLoS computational biology · 2026Article
- A guide to understanding tumour evolution through the lens of population genetics.Nature reviews. Cancer · 2026Review
- Non-B DNA structures and their contributions to genetic diversity, aging, and disease.Nucleic acids research · 2026Review
- Mutational signatures in hematological malignancies.Einstein (Sao Paulo, Brazil) · 2026Review
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- Treatment-related mutagenic processes in acute lymphoblastic leukemia.Haematologica · 2025Review
- Genomic characterization of tumor mutational burden-high breast carcinomas.NPJ precision oncology · 2025Article
- APOBEC affects tumor evolution and age at onset of lung cancer in smokers.Nature communications · 2025Article
- Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.Molecular medicine (Cambridge, Mass.) · 2025Article
- The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).eLife · 2024Article
- Whole-genome mapping of APOBEC mutagenesis in metastatic urothelial carcinoma identifies driver hotspot mutations and a novel mutational signature.Cell genomics · 2024Article
- The Crucial Findings Derived from the Special Issue "Inside Cancer Genomics: From Structure to Therapy".Cancers · 2023Article
- Cancer driver mutations: predictions and reality.Trends in molecular medicine · 2023Review
- Influence network model uncovers relations between biological processes and mutational signatures.Genome medicine · 2023Article
- Cervical cancer heterogeneity: a constant battle against viruses and drugs.Biomarker research · 2022Review
- Association of mutation signature effectuating processes with mutation hotspots in driver genes and non-coding regions.Nature communications · 2022Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cancer driving mutations are difficult to identify especially in the non-coding part of the genome. Here, we present sigDriver, an algorithm dedicated to call driver mutations. Using 3813 whole-genome sequenced tumors from International Cancer Genome Consortium, The Cancer Genome Atlas Program, and a childhood pan-cancer cohort, we employ mutational signatures based on single-base substitution in the context of tri- and penta-nucleotide motifs for hotspot discovery. Knowledge-based annotations on mutational hotspots reveal enrichment in coding regions and regulatory elements for 6 mutational signatures, including APOBEC and somatic hypermutation signatures. APOBEC activity is associated with 32 hotspots of which 11 are known and 11 are putative regulatory drivers. Somatic single nucleotide variants clusters detected at hypermutation-associated hotspots are distinct from translocation or gene amplifications. Patients carrying APOBEC induced PIK3CA driver mutations show lower occurrence of signature SBS39. In summary, sigDriver uncovers mutational processes associated with known and putative tumor drivers and hotspots particularly in the non-coding regions of the genome.
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