{"entity":{"id":"mutational-signature","kind":"term","name":"Mutational signature","aka":["mutational signatures"],"tldr":"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.","asOf":"2026-09-04","wikipedia":"https://en.wikipedia.org/wiki/Mutational_signatures","links":[{"label":"Wikipedia","url":"https://en.wikipedia.org/wiki/Mutational_signatures"}],"tags":[],"related":[],"cancers":[],"sections":[],"technologies":["wes-wgs"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"category":"Genomics & genetics"},"route":"/terms/mutational-signature/","neighbours":{"technology":[{"id":"wes-wgs","kind":"technology","name":"Whole-exome & whole-genome sequencing","route":"/technologies/wes-wgs/"}],"cancer":[{"id":"colorectal","kind":"cancer","name":"Colorectal 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signatures","route":"/key-papers/paper-davies-nat-med/"},{"id":"paper-nepal-gallbladder-microenvironment-subtypes-j-hepatol-2021","kind":"paper","name":"Integrative molecular characterisation of gallbladder cancer reveals micro-environment-associated subtypes","route":"/key-papers/paper-nepal-gallbladder-microenvironment-subtypes-j-hepatol-2021/"},{"id":"paper-martincorena-somatic-mutations-normal-skin-science-2015","kind":"paper","name":"Martincorena: normal sun-exposed skin is a patchwork of cancer-mutation clones","route":"/key-papers/paper-martincorena-somatic-mutations-normal-skin-science-2015/"},{"id":"paper-alexandrov-tobacco-smoking-mutational-signatures-science-2016","kind":"paper","name":"Mutational signatures associated with tobacco smoking in human cancer","route":"/key-papers/paper-alexandrov-tobacco-smoking-mutational-signatures-science-2016/"},{"id":"paper-barroso-sousa-breast-tmb-prevalence-ann-oncol-2020","kind":"paper","name":"Prevalence and mutational determinants of high tumor mutation burden in breast cancer","route":"/key-papers/paper-barroso-sousa-breast-tmb-prevalence-ann-oncol-2020/"},{"id":"paper-rizvi-mutational-landscape-pd1-science-2015","kind":"paper","name":"Rizvi 2015: the mutational landscape determines who responds to PD-1 blockade in lung cancer","route":"/key-papers/paper-rizvi-mutational-landscape-pd1-science-2015/"},{"id":"paper-tcga-pancancer-atlas-cell-2018","kind":"paper","name":"TCGA Pan-Cancer Atlas: 10,000 tumours across 33 cancer types, classified by molecular features","route":"/key-papers/paper-tcga-pancancer-atlas-cell-2018/"},{"id":"paper-lee-six-somatic-mutation-normal-colorectal-crypts-nature-2019","kind":"paper","name":"The landscape of somatic mutation in normal colorectal epithelial cells","route":"/key-papers/paper-lee-six-somatic-mutation-normal-colorectal-crypts-nature-2019/"},{"id":"paper-waddell-whole-genomes-pancreatic-nature-2015","kind":"paper","name":"Whole genomes redefine the mutational landscape of pancreatic cancer","route":"/key-papers/paper-waddell-whole-genomes-pancreatic-nature-2015/"},{"id":"paper-staaf-tnbc-whole-genome-scan-b-nat-med-2019","kind":"paper","name":"Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study","route":"/key-papers/paper-staaf-tnbc-whole-genome-scan-b-nat-med-2019/"}],"term":[{"id":"colibactin","kind":"term","name":"Colibactin","route":"/terms/colibactin/"},{"id":"driver-passenger-model","kind":"term","name":"Driver and passenger mutations: the refined somatic mutation theory","route":"/terms/driver-passenger-model/"},{"id":"genome-instability-mutation","kind":"term","name":"Enabling characteristic: genome instability and mutation","route":"/terms/genome-instability-mutation/"},{"id":"mcpyv-status","kind":"term","name":"Merkel cell polyomavirus (MCPyV) status","route":"/terms/mcpyv-status/"},{"id":"mutation","kind":"term","name":"Mutation","route":"/terms/mutation/"},{"id":"risk-factor","kind":"term","name":"Risk factor","route":"/terms/risk-factor/"},{"id":"somatic-mutation-theory","kind":"term","name":"Somatic mutation theory of cancer","route":"/terms/somatic-mutation-theory/"}],"collection":[{"id":"cosmic","kind":"collection","name":"COSMIC (Catalogue of Somatic Mutations in Cancer)","route":"/collections/cosmic/"}],"person":[{"id":"gad-getz","kind":"person","name":"Gad Getz","route":"/people/gad-getz/"},{"id":"michael-stratton","kind":"person","name":"Michael Stratton","route":"/people/michael-stratton/"}],"bottleneck":[{"id":"b-tumor-heterogeneity","kind":"bottleneck","name":"Tumour heterogeneity and clonal evolution","route":"/bottlenecks/b-tumor-heterogeneity/"}],"idea":[{"id":"idea-bio1-evolvability-index","kind":"idea","name":"A standard evolvability score for every 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interactions","route":"/pathways/microbiome-tumour/"},{"id":"mismatch-repair-msi","kind":"pathway","name":"Mismatch repair & microsatellite instability","route":"/pathways/mismatch-repair-msi/"},{"id":"mutagenesis-signatures","kind":"pathway","name":"Mutagenesis & mutational signatures","route":"/pathways/mutagenesis-signatures/"}],"journal":[{"id":"nature-genetics","kind":"journal","name":"Nature Genetics","route":"/journals/nature-genetics/"}],"institution":[{"id":"cancer-grand-challenges","kind":"institution","name":"Cancer Grand Challenges","route":"/institutions/cancer-grand-challenges/"},{"id":"nccs","kind":"institution","name":"National Cancer Centre Singapore","route":"/institutions/nccs/"},{"id":"wellcome","kind":"institution","name":"Wellcome","route":"/institutions/wellcome/"},{"id":"wellcome-sanger","kind":"institution","name":"Wellcome Sanger Institute","route":"/institutions/wellcome-sanger/"}]}}