Germline miRNA DNA variants and the risk of colorectal cancer by subtype

Noralane M. Lindor, Melissa C. Larson, Melissa S. DeRycke, Shannon K. McDonnell, Saurabh Baheti, Zachary C. Fogarty, Aung Ko Win, John D. Potter, Daniel D. Buchanan, Mark Clendenning, Polly A. Newcomb, Graham Casey, Steven Gallinger, Loïc Le Marchand, John L. Hopper, Mark A. Jenkins, Ellen L. Goode, Stephen N. Thibodeau

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


MicroRNAs (miRNAs) regulate up to one-third of all protein-coding genes including genes relevant to cancer. Variants within miRNAs have been reported to be associated with prognosis, survival, response to chemotherapy across cancer types, in vitro parameters of cell growth, and altered risks for development of cancer. Five miRNA variants have been reported to be associated with risk for development of colorectal cancer (CRC). In this study, we evaluated germline genetic variation in 1,123 miRNAs in 899 individuals with CRCs categorized by clinical subtypes and in 204 controls. The role of common miRNA variation in CRC was investigated using single variant and miRNA-level association tests. Twenty-nine miRNAs and 30 variants exhibited some marginal association with CRC in at least one subtype of CRC. Previously reported associations were not confirmed (n = 4) or could not be evaluated (n = 1). The variants noted for the CRCs with deficient mismatch repair showed little overlap with the variants noted for CRCs with proficient mismatch repair, consistent with our evolving understanding of the distinct biology underlying these two groups.

Original languageEnglish (US)
Pages (from-to)177-184
Number of pages8
JournalGenes Chromosomes and Cancer
Issue number3
StatePublished - Mar 1 2017

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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