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Approved research

Risk profiles for cancers; polygenic risk scores with and without non-genetic risk factors

Principal Investigator: Professor David Hunter
Approved Research ID: 33952
Approval date: January 28th 2019

Lay summary

The development of polygenic risk scores enables risk stratification for individual cancers. These have been developed by international consortia. The purpose of this research is to compare the performance of the polygenic risk scores with and without non-genetic risk scores for each cancer type. The findings will improve understanding of the fit of risk prediction models to individual cancer types. This may lead benefits to those who have chosen to undergo a chip-based genetic test who wish to understand their risk of individual cancers. Based on results from cancer type-specific consortia we will generate the polygenic risk score based on all variants shown to be genome-wide significant in the consortia, and potentially additional variants that are not genome-wide significant.. We will use various statistical measures to evaluate the test performance such as sensitivity, specificity and positive predictive value at various cutoffs. We will then add the known non-genetic risk factors for each cancer to the models and calculate how much this addition improves predictive performance.