Main Article Content
Established risk factors for prostate cancer include age, ethnicity, a family history of prostate cancer or carrying a pathogenic germline variation in a prostate cancer predisposition gene. Approximately 10-15% of men with advanced prostate cancer have a germline genetic predisposition to the disease (i.e., BRCA2). Whilst the largest, and most well-known prostate cancer screening studies (i.e., ERSPC) have focused on the use of prostate-specific antigen as a screening tool, the incorporation of tissue and liquid genomic biomarkers alongside modern imaging modalities are being designed to individualize and improve the accuracy of both the screening and diagnostic pathway. The use of a polygenic risk scoring can now also offer a man his personalized prostate cancer risk based on a number of low-risk, common genetic variants and is currently the subject of ongoing research. The mainstreaming of genomics into the prostate cancer screening, diagnostic and treatment pathway will soon become embedded into routine clinical practice. This chapter aims to summarize current knowledge on the topic of men who harbor a genetic predisposition to prostate cancer, how this predisposition arises, its stratification into low-risk common variants vs. high-risk, rare variants, and its impact and incorporation into screening and diagnostic algorithms. The importance of germline genetics beyond screening and diagnostics, its role in the identification of lethal prostate cancer, and in the selection of targeted treatments for advanced disease is also discussed.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Copyright of individual chapters belongs to the respective authors. The authors grant unrestricted publishing and distribution rights to the publisher. The electronic versions of the chapters are published under Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0). Users are allowed to share and adapt the chapters for any non-commercial purposes as long as the authors and the publisher are explicitly identified and properly acknowledged as the original source. The books in their entirety are subject to copyright by the publisher. The reproduction, modification, republication and display of the books in their entirety, in any form, by anyone, for commercial purposes are strictly prohibited without the written consent of the publisher.