The genomic complexity of primary human prostate cancer

Nature. 2011 Feb 10;470(7333):214-20. doi: 10.1038/nature09744.

Abstract

Prostate cancer is the second most common cause of male cancer deaths in the United States. However, the full range of prostate cancer genomic alterations is incompletely characterized. Here we present the complete sequence of seven primary human prostate cancers and their paired normal counterparts. Several tumours contained complex chains of balanced (that is, 'copy-neutral') rearrangements that occurred within or adjacent to known cancer genes. Rearrangement breakpoints were enriched near open chromatin, androgen receptor and ERG DNA binding sites in the setting of the ETS gene fusion TMPRSS2-ERG, but inversely correlated with these regions in tumours lacking ETS fusions. This observation suggests a link between chromatin or transcriptional regulation and the genesis of genomic aberrations. Three tumours contained rearrangements that disrupted CADM2, and four harboured events disrupting either PTEN (unbalanced events), a prostate tumour suppressor, or MAGI2 (balanced events), a PTEN interacting protein not previously implicated in prostate tumorigenesis. Thus, genomic rearrangements may arise from transcriptional or chromatin aberrancies and engage prostate tumorigenic mechanisms.

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

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins / genetics
  • Case-Control Studies
  • Cell Adhesion Molecules / genetics
  • Chromatin / genetics
  • Chromatin / metabolism
  • Chromosome Aberrations
  • Chromosome Breakpoints
  • Epigenesis, Genetic / genetics
  • Gene Expression Regulation, Neoplastic
  • Genome, Human / genetics*
  • Guanylate Kinases
  • Humans
  • Male
  • PTEN Phosphohydrolase / genetics
  • PTEN Phosphohydrolase / metabolism
  • Prostatic Neoplasms / genetics*
  • Recombination, Genetic / genetics
  • Signal Transduction / genetics
  • Transcription, Genetic

Substances

  • Adaptor Proteins, Signal Transducing
  • CADM2 protein, human
  • Carrier Proteins
  • Cell Adhesion Molecules
  • Chromatin
  • Guanylate Kinases
  • MAGI2 protein, human
  • PTEN Phosphohydrolase
  • PTEN protein, human