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Study Description

Colorectal cancer (CRC) is a highly heterogeneous disease, for which prognosis has been relegated to clinic-pathologic staging for decades. There is a need to molecularly stratify subpopulations of CRC to better predict outcome and assign therapies. Here we report targeted exome sequencing of 1,321 cancer-related genes on 468 tumor specimens, which identified a subset of 17 genes that best classify CRC, with APC (Gene ID: 324) playing a central role in predicting overall survival. APC may assume 0, 1, or 2 truncating mutations, each with a striking differential impact on survival. Tumors lacking any APC mutation carry a worse prognosis than single APC mutation tumors, but tumors with two APC mutations and KRAS (Gene ID: 3845) and TP53 (Gene ID: 7157) mutations confer the poorest survival among all the subgroups examined. Our study demonstrates a substantial prognostic role for APC and suggests that sequencing of APC may have clinical utility in the routine staging and potential therapeutic assignment for CRC.

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Study Inclusion/Exclusion Criteria

Inclusion criteria: patients with colorectal cancer specimen subjected to targeted gene sequencing.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Targeted Exome Sequencing Illumina Genome Analyzer IIX N/A N/A
Targeted Exome Sequencing Agilent SureSelect XT Custom Capture N/A N/A
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Diseases/Traits Related to Study (MeSH terms)
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Study Attribution
  • Principal Investigator
    • Timothy Yeatman, MD. Gibbs Cancer Center and Research Institute, SC, USA.
  • Funding Source
    • U01CA157960. National Institutes of Health, Bethesda, MD, USA.