Anja Tüchler, Laura Grohs, Alexander Volk, Stefan Aretz
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引用次数: 0
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.
期刊介绍：
medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter.
medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community.
In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.
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