Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening
Version 2 2024-09-18, 23:38Version 2 2024-09-18, 23:38
Version 1 2023-05-21, 10:01Version 1 2023-05-21, 10:01
journal contribution
posted on 2024-09-18, 23:38authored byMA Jenkins, E Makalic, JG Dowty, DF Schmidt, GS Dite, RJ MacInnes, DA Ouakrim, M Clendenning, LB Flander, Oliver StanesbyOliver Stanesby, JL Hopper, AK Win, DD Buchanan
<p>Aim: To determine whether single nucleotide polymorphisms (SNPs) can be used to identify people who should be screened for colorectal cancer.</p> <p>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.</p> <p>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.</p> <p>Conclusion: We have quantified the extent to which known susceptibility SNPs can stratify the population into clinically useful colorectal cancer risk categories.</p>