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Polygenic risk scores in cancer
Anja Tüchler1, Laura Grohs2, Alexander Volk3
1University Hospital Cologne (AöR) Institute for Hereditary Cancers Kerpener Str. 62 50937 Cologne Germany.
Abstract:
Polygenic risk scores (PRS) have emerged as a powerful tool to refine cancer risk prediction beyond age, family history, and modifiable environmental risk factors, enabling individualized prevention and early detection strategies. Evidence from breast, colorectal, and prostate cancer demonstrates that PRS significantly improve risk stratification in both sporadic and hereditary settings and can modify penetrance of pathogenic germline variants. Integrating PRS into multifactorial models such as CanRisk enhances predictive accuracy and supports risk-adapted preventive approaches. While implementation studies show feasibility, prospective validation and standardization as well as ancestry-specific calibration remain key challenges for clinical translation.
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