Mutational signatures: the patterns of somatic mutations hidden in cancer genomes

Curr Opin Genet Dev. 2014 Feb;24(100):52-60. doi: 10.1016/j.gde.2013.11.014. Epub 2013 Dec 29.


All cancers originate from a single cell that starts to behave abnormally due to the acquired somatic mutations in its genome. Until recently, the knowledge of the mutational processes that cause these somatic mutations has been very limited. Recent advances in sequencing technologies and the development of novel mathematical approaches have allowed deciphering the patterns of somatic mutations caused by different mutational processes. Here, we summarize our current understanding of mutational patterns and mutational signatures in light of both the somatic cell paradigm of cancer research and the recent developments in the field of cancer genomics.

Publication types

  • Review

MeSH terms

  • Genome, Human*
  • Genomics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Mutation*
  • Neoplasms / genetics*
  • Tumor Suppressor Protein p53 / genetics


  • Tumor Suppressor Protein p53