articleNatureJul 17, 2012HYBRID OA

Comprehensive molecular characterization of human colon and rectal cancer

TCThe Cancer Genome Atlas Network
PubMed
Indexed incrossrefpubmed

Abstract

To characterize somatic alterations in colorectal carcinoma, we conducted a genome-scale analysis of 276 samples, analysing exome sequence, DNA copy number, promoter methylation and messenger RNA and microRNA expression. A subset of these samples (97) underwent low-depth-of-coverage whole-genome sequencing. In total, 16% of colorectal carcinomas were found to be hypermutated: three-quarters of these had the expected high microsatellite instability, usually with hypermethylation and MLH1 silencing, and one-quarter had somatic mismatch-repair gene and polymerase ε (POLE) mutations. Excluding the hypermutated cancers, colon and rectum cancers were found to have considerably similar patterns of genomic alteration.…

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Authors

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  • TC
    The Cancer Genome Atlas NetworkCorresponding

Topics & keywords

Topics
Keywords
  • Biology
  • KRAS
  • MLH1
  • Microsatellite instability
  • Cancer research
  • Genome instability
  • DNA methylation
  • Colorectal cancer
UN Sustainable Development Goals
  • Good health and well-being
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