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

journal contribution
posted on 2023-05-21, 10:01 authored by Jenkins, MA, Makalic, E, Dowty, JG, Schmidt, DF, Dite, GS, MacInnes, RJ, Ouakrim, DA, Clendenning, M, Flander, LB, Oliver StanesbyOliver Stanesby, Hopper, JL, Win, AK, Buchanan, DD

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.

History

Publication title

Future Oncology

Volume

12

Issue

4

Pagination

503-513

ISSN

1479-6694

Department/School

Menzies Institute for Medical Research

Publisher

Future Medicine Ltd.

Place of publication

United Kingdom

Rights statement

Copyright 2016 Future Medicine Ltd

Repository Status

  • Restricted

Socio-economic Objectives

Prevention of human diseases and conditions; Determinants of health; Preventive medicine