# Mutational signature

Source: https://onco.cc/terms/mutational-signature/  
OnCo record `mutational-signature` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

A characteristic pattern of mutations that reveals what caused them: tobacco, UV, a broken repair gene.

## Summary

A mutational signature is a characteristic pattern of mutations that reveals what caused them, whether tobacco, ultraviolet light or a broken repair gene. The COSMIC catalogue names them: SBS1 for ageing, SBS3 for HRD, SBS4 for tobacco, SBS7 for UV, SBS2 and SBS13 for APOBEC, and SBS6 and SBS15 for mismatch repair loss. Signature 3 identifies HRD beyond BRCA, and APOBEC signatures predict certain resistance mutations, which motivates ideas on APOBEC inhibitors during targeted therapy and on blocking error-prone repair. Signatures require Whole-exome & whole-genome sequencing, and the term links to the COSMIC collection, Gad Getz, the TCGA Pan-Cancer Atlas paper and the pathways on chromosomal instability and clonal evolution.

## Fields

- Kind: Term
- Last checked: 2026-09-04
- Also known as: mutational signatures

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Mutational_signatures
- Wikipedia: https://en.wikipedia.org/wiki/Mutational_signatures

## Connected records

- technologies: [Whole-exome & whole-genome sequencing](https://onco.cc/technologies/wes-wgs/)
- cancers: [Colorectal cancer](https://onco.cc/cancers/colorectal/), [Gallbladder cancer](https://onco.cc/cancers/gallbladder/), [Non-small-cell lung cancer](https://onco.cc/cancers/nsclc/), [Pancreatic ductal adenocarcinoma](https://onco.cc/cancers/pancreatic/), [Triple-negative breast cancer (TNBC)](https://onco.cc/cancers/tnbc/)
- key papers: [Association of distinct mutational signatures with correlates of increased immune activity in pancreatic ductal adenocarcinoma](https://onco.cc/key-papers/paper-connor-mutational-signatures-immune-pancreatic-jama-oncol-2017/), [Cancer genome landscapes: about 140 driver genes, and each tumour needs only a handful](https://onco.cc/key-papers/paper-vogelstein-cancer-genome-landscapes-science-2013/), [Clonal history and genetic predictors of transformation into small-cell carcinomas from lung adenocarcinomas](https://onco.cc/key-papers/paper-lee-clonal-history-small-cell-transformation-jco-2017/), [Concurrent RB1 and TP53 alterations define a subset of EGFR-mutant lung cancers at risk for histologic transformation and inferior clinical outcomes](https://onco.cc/key-papers/paper-offin-rb1-tp53-transformation-risk-jto-2019/), [Genomic and evolutionary classification of lung cancer in never smokers](https://onco.cc/key-papers/paper-zhang-lung-cancer-never-smokers-nat-genet-2021/), [Genomic and transcriptomic landscape of triple-negative breast cancers: subtypes and treatment strategies](https://onco.cc/key-papers/paper-jiang-fuscc-tnbc-landscape-cancer-cell-2019/), [Genomic methods identify homologous recombination deficiency in pancreas adenocarcinoma and optimize treatment selection](https://onco.cc/key-papers/paper-park-hrd-pancreatic-platinum-ccr-2020/), [Genomic spectra of biliary tract cancer](https://onco.cc/key-papers/paper-nakamura-biliary-genomic-spectra-nat-genet-2015/), [Hollstein 1991: p53 mutations in human cancers](https://onco.cc/key-papers/paper-hollstein-p53-mutations-science-1991/), [HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures](https://onco.cc/key-papers/paper-davies-nat-med/), [Integrative molecular characterisation of gallbladder cancer reveals micro-environment-associated subtypes](https://onco.cc/key-papers/paper-nepal-gallbladder-microenvironment-subtypes-j-hepatol-2021/), [Martincorena: normal sun-exposed skin is a patchwork of cancer-mutation clones](https://onco.cc/key-papers/paper-martincorena-somatic-mutations-normal-skin-science-2015/), [Mutational signatures associated with tobacco smoking in human cancer](https://onco.cc/key-papers/paper-alexandrov-tobacco-smoking-mutational-signatures-science-2016/), [Prevalence and mutational determinants of high tumor mutation burden in breast cancer](https://onco.cc/key-papers/paper-barroso-sousa-breast-tmb-prevalence-ann-oncol-2020/), [Rizvi 2015: the mutational landscape determines who responds to PD-1 blockade in lung cancer](https://onco.cc/key-papers/paper-rizvi-mutational-landscape-pd1-science-2015/), [TCGA Pan-Cancer Atlas: 10,000 tumours across 33 cancer types, classified by molecular features](https://onco.cc/key-papers/paper-tcga-pancancer-atlas-cell-2018/), [The landscape of somatic mutation in normal colorectal epithelial cells](https://onco.cc/key-papers/paper-lee-six-somatic-mutation-normal-colorectal-crypts-nature-2019/), [Whole genomes redefine the mutational landscape of pancreatic cancer](https://onco.cc/key-papers/paper-waddell-whole-genomes-pancreatic-nature-2015/), [Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study](https://onco.cc/key-papers/paper-staaf-tnbc-whole-genome-scan-b-nat-med-2019/)
- terms: [Colibactin](https://onco.cc/terms/colibactin/), [Driver and passenger mutations: the refined somatic mutation theory](https://onco.cc/terms/driver-passenger-model/), [Enabling characteristic: genome instability and mutation](https://onco.cc/terms/genome-instability-mutation/), [Merkel cell polyomavirus (MCPyV) status](https://onco.cc/terms/mcpyv-status/), [Mutation](https://onco.cc/terms/mutation/), [Risk factor](https://onco.cc/terms/risk-factor/), [Somatic mutation theory of cancer](https://onco.cc/terms/somatic-mutation-theory/)
- collections: [COSMIC (Catalogue of Somatic Mutations in Cancer)](https://onco.cc/collections/cosmic/)
- people: [Gad Getz](https://onco.cc/people/gad-getz/), [Michael Stratton](https://onco.cc/people/michael-stratton/)
- bottlenecks: [Tumour heterogeneity and clonal evolution](https://onco.cc/bottlenecks/b-tumor-heterogeneity/)
- ideas: [A standard evolvability score for every tumour](https://onco.cc/ideas/idea-bio1-evolvability-index/), [Slow the tumour's mutation engine with APOBEC inhibitors during targeted therapy](https://onco.cc/ideas/idea-bio1-apobec-inhibitor-adjunct/), [Turn off the error-prone repair that manufactures resistance mutations](https://onco.cc/ideas/idea-bio1-mutagenesis-blockade-rev1/)
- pathways: [Chromosomal instability & aneuploidy](https://onco.cc/pathways/chromosomal-instability/), [Clonal evolution & minimal residual disease](https://onco.cc/pathways/clonal-evolution/), [Double-strand break repair: HR versus end joining](https://onco.cc/pathways/homologous-recombination-repair/), [Microbiome-tumour interactions](https://onco.cc/pathways/microbiome-tumour/), [Mismatch repair & microsatellite instability](https://onco.cc/pathways/mismatch-repair-msi/), [Mutagenesis & mutational signatures](https://onco.cc/pathways/mutagenesis-signatures/)
- journals: [Nature Genetics](https://onco.cc/journals/nature-genetics/)
- institutions: [Cancer Grand Challenges](https://onco.cc/institutions/cancer-grand-challenges/), [National Cancer Centre Singapore](https://onco.cc/institutions/nccs/), [Wellcome](https://onco.cc/institutions/wellcome/), [Wellcome Sanger Institute](https://onco.cc/institutions/wellcome-sanger/)

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JSON: https://onco.cc/api/v1/entities/mutational-signature.json