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Updated: Mar 26, 2026

Evaluation of Colorectal Cancer Risk and Prevalence by Stool DNA Integrity Detection
Published on: June 8, 2020
Quantifying the utility of single nucleotide polymorphisms to guide colorectal cancer screening
Mark A Jenkins1, Enes Makalic1, James G Dowty1
1Centre for Epidemiology & Biostatistics, Melbourne School of Population & Global Health, The University of Melbourne, Parkville Victoria, VIC 3010, Australia.
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.
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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...