articleNatureFeb 5, 2020HYBRID OA

The repertoire of mutational signatures in human cancer

LBLudmil B. AlexandrovJKJaegil KimNJNicholas J. HaradhvalaMNMi Ni HuangAWAlvin Wei Tian Ng

University of California San Diego · Broad Institute · +372 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

Abstract Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature 1 . Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium 2 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we characterized mutational signatures using 84,729,690 somatic mutations from 4,645 whole-genome and 19,184 exome sequences that encompass most types of cancer. We identified 49 single-base-substitution, 11 doublet-base-substitution, 4 clustered-base-substitution and 17 small insertion-and-deletion signatures. The substantial size of our dataset, compared with previous analyses 3–15 ,…

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Topics & keywords

Topics
Keywords
  • Somatic cell
  • Genetics
  • Biology
  • Genome
  • Cancer
  • Repertoire
  • Mutation
  • Computational biology
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