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

Jenkins MA1, Makalic E1, Dowty JG1, Schmidt DF1, Dite GS1, MacInnis RJ1,2, Ait Ouakrim D1, Clendenning M3, Flander LB1, Stanesby OK1, Hopper JL1, Win AK1, Buchanan DD1,3.

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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.