SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation
<b>Background/Objectives:</b> Prostate cancer is the most common cancer among men globally and a leading cause of cancer-related death. Germline genetic evaluation is increasingly recognized as essential for men with high-risk features such as a strong family history or advanced disease....
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MDPI AG
2025-06-01
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| Series: | Société Internationale d’Urologie Journal |
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| author | James T. Kearns Annabelle Ashworth Elena Castro Rosalind A. Eeles Liesel M. FitzGerald Peter J. Hulick Stacy Loeb Christian P. Pavlovich Timothy R. Rebbeck Susan T. Vadaparampil Zhuqing Shi Huy Tran Jun Wei Jianfeng Xu Brian T. Helfand |
| author_facet | James T. Kearns Annabelle Ashworth Elena Castro Rosalind A. Eeles Liesel M. FitzGerald Peter J. Hulick Stacy Loeb Christian P. Pavlovich Timothy R. Rebbeck Susan T. Vadaparampil Zhuqing Shi Huy Tran Jun Wei Jianfeng Xu Brian T. Helfand |
| author_sort | James T. Kearns |
| collection | DOAJ |
| description | <b>Background/Objectives:</b> Prostate cancer is the most common cancer among men globally and a leading cause of cancer-related death. Germline genetic evaluation is increasingly recognized as essential for men with high-risk features such as a strong family history or advanced disease. <b>Methods:</b> Comprehensive genetic risk assessment should integrate three components: family history (FH), rare pathogenic mutations (RPMs), and polygenic risk scores (PRS). RPMs in DNA repair genes (e.g., BRCA2, CHEK2, ATM) can inform screening, prognosis, and treatment strategies, particularly for metastatic or aggressive disease. PRS, derived from common genetic variants, provides a personalized and independent measure of prostate cancer risk and may guide decisions on screening intensity and timing. <b>Results:</b> Although PRS cannot yet differentiate between indolent and aggressive cancer, it has the potential to stratify men into low and high-risk categories more effectively than FH or RPMs alone. Knowledge of specific RPMs can influence treatment decisions in clinically advanced prostate cancer. Challenges in clinical implementation include limited provider awareness, underutilization of genetic counseling, and lack of diversity in genomic datasets, which can lead to misdiagnoses. Emerging technologies and digital tools are being developed to streamline genetic testing and counseling. Population-level strategies and tailored screening protocols based on genetic risk are under active investigation. <b>Conclusions:</b> While early evidence suggests high satisfaction with genetic testing among patients, further studies in diverse populations are needed. Integration of germline genetic information into prostate cancer management offers promising avenues for personalized screening, surveillance, and treatment, ultimately aiming to reduce morbidity and mortality. |
| format | Article |
| id | doaj-art-e7bae482a1864e0aba149030a634c8f8 |
| institution | Kabale University |
| issn | 2563-6499 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Société Internationale d’Urologie Journal |
| spelling | doaj-art-e7bae482a1864e0aba149030a634c8f82025-08-20T03:29:44ZengMDPI AGSociété Internationale d’Urologie Journal2563-64992025-06-01634510.3390/siuj6030045SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical ImplementationJames T. Kearns0Annabelle Ashworth1Elena Castro2Rosalind A. Eeles3Liesel M. FitzGerald4Peter J. Hulick5Stacy Loeb6Christian P. Pavlovich7Timothy R. Rebbeck8Susan T. Vadaparampil9Zhuqing Shi10Huy Tran11Jun Wei12Jianfeng Xu13Brian T. Helfand14Division of Urology, NorthShore Hospital, Endeavor Health, Evanston, IL 60201, USAProgram for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USADepartment of Medical Oncology, Virgen de la Victoria University Hospital, Institute of Biomedical Research in Málaga, 29010 Malaga, SpainDivision of Genetics and Epidemiology, The Institute of Cancer Research, The Royal Marsden NHS Foundation Trust, London SW3 6JJ, UKMenzies Institute for Medical Research, University of Tasmania, Hobart 7000, AustraliaMark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem, Evanston, IL 60201, USADepartment of Urology and Population Health, New York University Langone Health and Manhattan Veterans Affairs, New York, NY 10016, USAJames Buchanan Brady Urological Institute, Department of Urology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USADepartment of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA 02115, USADepartment of Health Outcomes and Behavior, Moffitt Cancer Center, Tampa, FL 33612, USAProgram for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USAProgram for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USAProgram for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USAProgram for Personalized Cancer Care, NorthShore University HealthSystem, Evanston, IL 60201, USADivision of Urology, NorthShore Hospital, Endeavor Health, Evanston, IL 60201, USA<b>Background/Objectives:</b> Prostate cancer is the most common cancer among men globally and a leading cause of cancer-related death. Germline genetic evaluation is increasingly recognized as essential for men with high-risk features such as a strong family history or advanced disease. <b>Methods:</b> Comprehensive genetic risk assessment should integrate three components: family history (FH), rare pathogenic mutations (RPMs), and polygenic risk scores (PRS). RPMs in DNA repair genes (e.g., BRCA2, CHEK2, ATM) can inform screening, prognosis, and treatment strategies, particularly for metastatic or aggressive disease. PRS, derived from common genetic variants, provides a personalized and independent measure of prostate cancer risk and may guide decisions on screening intensity and timing. <b>Results:</b> Although PRS cannot yet differentiate between indolent and aggressive cancer, it has the potential to stratify men into low and high-risk categories more effectively than FH or RPMs alone. Knowledge of specific RPMs can influence treatment decisions in clinically advanced prostate cancer. Challenges in clinical implementation include limited provider awareness, underutilization of genetic counseling, and lack of diversity in genomic datasets, which can lead to misdiagnoses. Emerging technologies and digital tools are being developed to streamline genetic testing and counseling. Population-level strategies and tailored screening protocols based on genetic risk are under active investigation. <b>Conclusions:</b> While early evidence suggests high satisfaction with genetic testing among patients, further studies in diverse populations are needed. Integration of germline genetic information into prostate cancer management offers promising avenues for personalized screening, surveillance, and treatment, ultimately aiming to reduce morbidity and mortality.https://www.mdpi.com/2563-6499/6/3/45prostate cancergeneticspolygenic risk scorepersonalized medicineclinical implementation |
| spellingShingle | James T. Kearns Annabelle Ashworth Elena Castro Rosalind A. Eeles Liesel M. FitzGerald Peter J. Hulick Stacy Loeb Christian P. Pavlovich Timothy R. Rebbeck Susan T. Vadaparampil Zhuqing Shi Huy Tran Jun Wei Jianfeng Xu Brian T. Helfand SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation Société Internationale d’Urologie Journal prostate cancer genetics polygenic risk score personalized medicine clinical implementation |
| title | SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation |
| title_full | SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation |
| title_fullStr | SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation |
| title_full_unstemmed | SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation |
| title_short | SIU-ICUD: Germline Genetic Susceptibility to Prostate Cancer: Utility and Clinical Implementation |
| title_sort | siu icud germline genetic susceptibility to prostate cancer utility and clinical implementation |
| topic | prostate cancer genetics polygenic risk score personalized medicine clinical implementation |
| url | https://www.mdpi.com/2563-6499/6/3/45 |
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