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Åke Borg

Åke Borg

Principal investigator

Åke Borg

The repertoire of mutational signatures in human cancer


  • Ludmil B Alexandrov
  • Jaegil Kim
  • Nicholas J Haradhvala
  • Mi Ni Huang
  • Alvin Wei Tian Ng
  • Yang Wu
  • Arnoud Boot
  • Kyle R Covington
  • Dmitry A Gordenin
  • Erik N Bergstrom
  • S M Ashiqul Islam
  • Nuria Lopez-Bigas
  • Leszek J Klimczak
  • John R McPherson
  • Sandro Morganella
  • Radhakrishnan Sabarinathan
  • David A Wheeler
  • Ville Mustonen
  • Gad Getz
  • Steven G Rozen
  • Michael R Stratton

Other contributions

  • Åke Borg
  • Markus Ringnér
  • Johan Staaf

Summary, in English

Somatic mutations in cancer genomes are caused by multiple mutational processes, each of which generates a characteristic mutational signature1. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium2 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 analyses3-15, enabled the discovery of new signatures, the separation of overlapping signatures and the decomposition of signatures into components that may represent associated-but distinct-DNA damage, repair and/or replication mechanisms. By estimating the contribution of each signature to the mutational catalogues of individual cancer genomes, we revealed associations of signatures to exogenous or endogenous exposures, as well as to defective DNA-maintenance processes. However, many signatures are of unknown cause. This analysis provides a systematic perspective on the repertoire of mutational processes that contribute to the development of human cancer.


  • LUCC: Lund University Cancer Centre
  • Familial Breast Cancer
  • Breastcancer-genetics
  • Molecular Cell Biology
  • Breast/lungcancer
  • Division of Translational Cancer Research
  • Research Group Lung Cancer

Publishing year












Document type

Journal article


Nature Publishing Group


  • Medical Genetics


  • Age Factors
  • Base Sequence
  • Exome/genetics
  • Genome, Human/genetics
  • Humans
  • Mutation/genetics
  • Neoplasms/genetics
  • Sequence Analysis, DNA



Research group

  • Familial Breast Cancer
  • Research Group Lung Cancer


  • ISSN: 0028-0836