Prediction of colorectal cancer risk based on profiling with common genetic variants.

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dc.creatorLi, Xue
dc.creatorTimofeeva, Maria
dc.creatorSpiliopoulou, Athina
dc.creatorMcKeigue, Paul
dc.creatorHe, Yazhou
dc.creatorZhang, Xiaomeng
dc.creatorSvinti, Victoria
dc.creatorCampbell, Harry
dc.creatorHoulston, Richard S
dc.creatorTomlinson, Ian PM
dc.creatorFarrington, Susan M
dc.creatorDunlop, Malcolm G
dc.creatorTheodoratou, Evropi
dc.date2026-03-26T09:36:45Z
dc.date2020-12-15
dc.date.accessioned2026-08-03T04:23:52Z
dc.descriptionIncreasing numbers of common genetic variants associated with colorectal cancer (CRC) have been identified. Our study aimed to determine whether risk prediction based on common genetic variants might enable stratification for CRC risk. Meta-analysis of 11 genome-wide association studies comprising 16 871 cases and 26 328 controls was performed to capture CRC susceptibility variants. Genetic prediction models with several candidate polygenic risk scores (PRSs) were generated from Scottish CRC case-control studies (6478 cases and 11 043 controls) and the score with the best performance was then tested in UK Biobank (UKBB) (4800 cases and 20 287 controls). A weighted PRS of 116 CRC single nucleotide polymorphisms (wPRS116 ) was found with the best predictive performance, reporting a c-statistics of 0.60 and an odds ratio (OR) of 1.46 (95% confidence interval [CI] = 1.41-1.50, per SD increase) in Scottish data set. The predictive performance of this wPRS116 was consistently validated in UKBB data set with c-statistics of 0.61 and an OR of 1.49 (95% CI = 1.44-1.54, per SD increase). Modeling the levels of PRS with age and sex in the general UK population shows that employing genetic risk profiling can achieve a moderate degree of risk discrimination that could be helpful to identify a subpopulation with higher CRC risk due to genetic susceptibility.
dc.formatPrint-Electronic
dc.formatapplication/pdf
dc.identifier0020-7136
dc.identifierhttps://www.repository.cam.ac.uk/handle/1810/397885
dc.identifier1097-0215
dc.identifier.urihttps://repo.dare.co.zw/handle/123456789/188818
dc.languageeng
dc.publisherWiley
dc.publisherDepartment of Public Health and Primary Care, Cancer Genetic Epidemiology
dc.publisherhttps://doi.org/10.1002/ijc.33191
dc.rightsAttribution 4.0 International
dc.rightshttps://creativecommons.org/licenses/by/4.0/
dc.subjectcolorectal cancer
dc.subjectgenetic prediction
dc.subjectgenome-wide association study
dc.subjectpolygenic risk score
dc.subjectCase-Control Studies
dc.subjectColorectal Neoplasms
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectHumans
dc.subjectMale
dc.subjectModels, Genetic
dc.subjectMultifactorial Inheritance
dc.subjectPolymorphism, Single Nucleotide
dc.titlePrediction of colorectal cancer risk based on profiling with common genetic variants.
dc.typeArticle

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