An integrative approach to reveal driver gene fusions from paired-end sequencing data in cancer

Nat Biotechnol. 2009 Nov;27(11):1005-11. doi: 10.1038/nbt.1584. Epub 2009 Nov 1.

Abstract

Cancer genomes contain many aberrant gene fusions-a few that drive disease and many more that are nonspecific passengers. We developed an algorithm (the concept signature or 'ConSig' score) that nominates biologically important fusions from high-throughput data by assessing their association with 'molecular concepts' characteristic of cancer genes, including molecular interactions, pathways and functional annotations. Copy number data supported candidate fusions and suggested a breakpoint principle for intragenic copy number aberrations in fusion partners. By analyzing lung cancer transcriptome sequencing and genomic data, we identified a novel R3HDM2-NFE2 fusion in the H1792 cell line. Lung tissue microarrays revealed 2 of 76 lung cancer patients with genomic rearrangement at the NFE2 locus, suggesting recurrence. Knockdown of NFE2 decreased proliferation and invasion of H1792 cells. Together, these results present a systematic analysis of gene fusions in cancer and describe key characteristics that assist in new fusion discovery.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Algorithms
  • Animals
  • Computational Biology / methods*
  • Gene Fusion / genetics*
  • Genes, Neoplasm / genetics
  • Humans
  • Molecular Sequence Data
  • Neoplasms / genetics*
  • Point Mutation / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Recombination, Genetic / genetics
  • Reproducibility of Results
  • Sequence Analysis, DNA*

Associated data

  • GENBANK/GU068583