Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types

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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Publication Details

Journal
Nature Genetics
Published
2026-02-13
DOI
https://doi.org/10.1038/s41588-025-02474-x
Citations
1
Primary Topic
Cancer Genomics and Diagnostics
Type
article
Field-Weighted Citation Impact
24.82
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article

Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types

Amit Sud, Miguel Barquín, Aliah Hawari, Alex Cornish et al.
1 citations
Nature Genetics
Cancer Genomics and Diagnostics
24.82
article

Comprehensive repertoire of the chromosomal alteration and mutational signatures across 16 cancer types

Amit Sud, Miguel Barquín, Aliah Hawari, Alex Cornish, Avraam Tapinos, Andrew Everall, Daniel Chubb, Anna Frangou, Ben Kinnersley, David C Wedge, Richard S. Houlston, David N. Church, Andreas J. Gruber, Josephine Jung, Ludmil B. Alexandrov
article en
1 citations

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.

Nature GeneticsVol. 58(3)
Centre for Human Genetics (GB), Institute of Cancer Research (GB), King's College London (GB), University of Konstanz (DE), University of Manchester (GB), University of California San Diego (US), University of Oxford (GB), King's College Hospital NHS Foundation Trust (GB), Cancer Research UK Manchester Institute (GB), Oxford BioMedica (United Kingdom) (GB), CRUK Lung Cancer Centre of Excellence (GB), NIHR Manchester Biomedical Research Centre (GB), University College London (GB)
Openalex Percentile: Top 1%
Cancer Genomics and Diagnostics
24.82
DOIOpen Access PDFOpenAlex
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