Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening

Mark A Jenkins, Enes Makalic, James G Dowty, Daniel F Schmidt, Gillian S Dite, Robert J MacInnis, Driss Ait Ouakrim, Mark Clendenning, Louisa B Flander, Oliver K Stanesby, John L Hopper, Aung K Win, Daniel D Buchanan

Research output: Contribution to journalArticleResearchpeer-review

18 Citations (Scopus)


Aim: To determine whether single nucleotide polymorphisms (SNPs) can be used to identify people who should be screened for colorectal cancer. Methods: We simulated one million people with and without colorectal cancer based on published SNP allele frequencies and strengths of colorectal cancer association. We estimated 5-year risks of colorectal cancer by number of risk alleles. Results: We identified 45 SNPs with an average 1.14-fold increase colorectal cancer risk per allele (range: 1.05-1.53). The colorectal cancer risk for people in the highest quintile of risk alleles was 1.81-times that for the average person. Conclusion: We have quantified the extent to which known susceptibility SNPs can stratify the population into clinically useful colorectal cancer risk categories.

Original languageEnglish
Pages (from-to)503-513
Number of pages11
JournalFuture Oncology
Issue number4
Publication statusPublished - 2016
Externally publishedYes


  • cancer screening
  • colorectal cancer
  • risk prediction
  • single nucleotide polymorphisms

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