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Updated: Apr 15, 2026
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
Published on: November 2, 2013
Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer
Ali Amin Al Olama1, Sara Benlloch2, Antonis C Antoniou2
1Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom. aa461@medschl.cam.ac.uk dfe20@medschl.cam.ac.uk.
Genetic risk profiling using polygenic risk scores (PRS) can identify men at significantly higher or lower risk for prostate cancer. This PRS tool aids in targeted prevention and screening strategies for improved prostate cancer risk management.
Area of Science:
- Genetics
- Oncology
- Epidemiology
Background:
- Genome-wide association studies (GWAS) have identified numerous genetic variants linked to prostate cancer risk.
- These identified variants contribute significantly to familial prostate cancer risk.
- Genetic variants offer potential for stratifying individuals based on their prostate cancer risk.
Purpose of the Study:
- To develop and validate a polygenic risk score (PRS) for prostate cancer risk stratification.
- To assess the association between PRS, odds ratios (OR), and absolute risks of prostate cancer.
- To investigate the influence of age and family history on PRS-based risk estimates.
Main Methods:
- Genotyped 25 prostate cancer susceptibility loci in 40,414 individuals.
- Derived a polygenic risk score (PRS) from the genotyped loci.
- Estimated empirical odds ratios (OR) and age-specific absolute risks stratified by PRS and family history.
Main Results:
- Men in the top 1% PRS had a 30.6-fold higher risk compared to the bottom 1%.
- Absolute risk by age 85 was 65.8% for top 1% PRS with family history vs. 3.7% for bottom 1%.
- PRS showed a weak correlation with serum PSA levels (r=0.09).
Conclusions:
- Risk profiling using PRS effectively identifies men at substantially increased or decreased prostate cancer risk.
- The predictive value of PRS is stronger in younger men and those with a family history of prostate cancer.
- Integrating additional genetic loci into PRS is expected to enhance risk prediction accuracy for targeted interventions.
