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Study Description

Prostate cancer is a prevalent cause of cancer morbidity and mortality in men. In order to characterize the full range of somatic mutations in protein-coding genes that may drive the growth of prostate cancer, we sequenced the exonic regions of genomic and tumor DNA from over 100 patients with high-risk primary prostate cancer. Using hybrid capture and paired end DNA sequencing, we identified mutations in several novel putative prostate cancer genes. We interrogated copy number changes across tumor genomes using high-density SNP arrays, and identified a molecular subtype of cancer characterized by mutation of the ubiquitin ligase subunit SPOP and copy number loss at specific genomic loci.

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Study Inclusion/Exclusion Criteria

Primary prostate tumors from patients undergoing surgery for localized prostate cancer were selected based on high density of tumor tissue. DNA was extracted from prostate tumor tissue and from either adjacent normal prostate or blood for use as a normal DNA comparator. DNA was assessed for high quality and integrity on Affymetrix SNP 6.0 arrays and by agarose gel electrophoresis.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Affymetrix AFFY_6.0 934940 52074
Whole Genome Sequencing Illumina HiSeq 2000 N/A N/A
Exome Sequencing Illumina HiSeq 2000 N/A N/A
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Study Attribution
  • Principal Investigator
    • Levi Garraway, M.D. Ph.D. Dana Farber Cancer Institute, Boston, MA USA; Broad Institute, Cambridge, MA USA.
    • Eric Lander, Ph.D. Broad Institute, Cambridge, MA USA.
    • Stacey Gabriel, Ph.D. Broad Institute, Cambridge, MA USA.
  • Funding Source
    • U54 HG003067. National Institutes of Health, Bethesda, MD, USA.