Mutational Processes Molding the Genomes of 21 Breast Cancers

All cancers carry somatic mutations. The patterns of mutation in cancer genomes reflect the DNA damage and repair processes to which cancer cells and their precursors have been exposed. To explore these mechanisms further, we generated catalogs of somatic mutation from 21 breast cancers and applied mathematical methods to extract mutational signatures of the underlying processes. Multiple distinct single- and double-nucleotide substitution signatures were discernible. Cancers with BRCA1 or BRCA2 mutations exhibited a characteristic combination of substitution mutation signatures and a distinctive profile of deletions. Complex relationships between somatic mutation prevalence and transcription were detected. A…

• WT
  Wellcome Trust

  Awards: WT088340MA, 098051
• KC
  King's College Hospital NHS Foundation Trust
• NI
  National Institute for Health and Care Research

  Award: ICGC 08/09
• KC
  King's College London
• FW
  Fonds Wetenschappelijk Onderzoek
• NF
  Norges Forskningsråd
• VR
  Vlaamse regering
• NR
  National Research Council Canada
• BA
  Biotechnology and Biological Sciences Research Council

  Award: BBS/E/T/000PR6193
• BC
  BC Cancer Agency
• NC
  National Cancer Institute