Systematic identification of cancer driving signaling pathways based on mutual exclusivity of genomic alterations

Genome Biol. 2015 Feb 26;16(1):45. doi: 10.1186/s13059-015-0612-6.


We present a novel method for the identification of sets of mutually exclusive gene alterations in a given set of genomic profiles. We scan the groups of genes with a common downstream effect on the signaling network, using a mutual exclusivity criterion that ensures that each gene in the group significantly contributes to the mutual exclusivity pattern. We test the method on all available TCGA cancer genomics datasets, and detect multiple previously unreported alterations that show significant mutual exclusivity and are likely to be driver events.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Breast Neoplasms / etiology
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / pathology
  • Computational Biology*
  • Databases, Genetic
  • Female
  • Gene Expression Regulation, Neoplastic
  • Gene Regulatory Networks*
  • Genomics
  • Humans
  • Neoplasm Proteins / biosynthesis*
  • Neoplasm Proteins / genetics
  • Signal Transduction / genetics


  • Neoplasm Proteins