ArticleNature genetics2026
Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types.
Article in Nature genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed.
- Genomic instability, postoperative recurrence and therapeutic vulnerabilities in resectable non‑small cell lung cancer (Review).Oncology reports · 2026Review
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- Early replication fragile sites are associated with cancer-related CNVs and SNVs in human embryonic stem cells.Stem cell reports · 2026Article
- The landscape of structural variation in pediatric cancer.Cancer cell · 2026Article
- Single base focal hypermutation cooccurs with structural variation as an early event in advanced prostate tumourigenesis with ancestry specific independence: a multi-ancestral observational study.Genome medicine · 2026Observational
- Article
- Tissue-resident microbiota impacts colorectal cancer progression and prognosis.Nature communications · 2025Article
- Single base focal hypermutation cooccurs with structural variation as an early event in advanced prostate tumourigenesis with ancestry specific independence: a multi-ancestral observational study.Research square · 2025Article
- Treatment-related mutagenic processes in acute lymphoblastic leukemia.Haematologica · 2025Review
- The DREAM complex links somatic mutation, lifespan, and disease.bioRxiv : the preprint server for biology · 2025Article
- Panorama of Chromosomal Instability in Lung Cancer.medRxiv : the preprint server for health sciences · 2025Article
- Ancestry and somatic profile predict acral melanoma origin and prognosis.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Article
- The landscape of structural variation in pediatric cancer.bioRxiv : the preprint server for biology · 2025Article
- Geographic and age-related variations in mutational processes in colorectal cancer.medRxiv : the preprint server for health sciences · 2025Article
- Complex rearrangements fuel ERNature · 2025Article
- Article
- Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions.American journal of human genetics · 2024Article
- A comprehensive comparison of tools for fitting mutational signatures.Nature communications · 2024Article
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
Whole-genome sequencing (WGS) enables exploration of the full spectrum of oncogenic processes that generate characteristic patterns of mutations. Mutational signatures provide clues to tumor etiology and highlight potentially targetable pathway defects. Here alongside single-base substitution, doublet-base substitution, small insertion and deletion and copy number aberration signatures previously covered by the Catalogue of Somatic Mutations in Cancer (COSMIC), we report signatures from an additional mutation type, structural variations (SVs), extracted de novo from WGS in 10,983 patients across 16 tumor types recruited to the 100,000 Genomes Project. Across the five mutation classes, we report 134 signatures, 26 of which are new to COSMIC, including an SV signature reference set. By relating signatures to genomic features and clinical phenotypes, we provide further insights into mutagenic processes and the application of signature analysis to precision oncology.
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