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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

Abstract

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
Volume12
Issue number4
DOIs
Publication statusPublished - 2016
Externally publishedYes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

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

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