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Research Article

Quantifying the Utility of Single Nucleotide Polymorphisms to Guide Colorectal Cancer Screening

, , , , , , , , , , , & show all
Pages 503-513 | Received 19 Aug 2015, Accepted 27 Oct 2015, Published online: 01 Feb 2016
 

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.

Financial & competing interests disclosure

This work was supported by Centre for Research Excellence grant APP1042021 and Program grant APP1074383 from the National Health and Medical Research Council (NHMRC), Australia. MA Jenkins is a NHMRC Senior Research Fellow. AK Win is a NHMRC Early Career Fellow. JL Hopper is a NHMRC Senior Principal Research Fellow. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.tandfonline.com/doi/suppl/10.2144/000112170

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