Genetic Testing and Imaging in Men with Familial History or Genetic Predisposition of Prostate Cancer-Introducing the Prospective "ProFam-Risk" Study

针对有前列腺癌家族史或遗传易感性的男性进行基因检测和影像学检查——前瞻性“ProFam-Risk”研究简介

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Abstract

Familial and genetic factors influence prostate cancer (PCa) risk, necessitating personalized prevention strategies. This study aims to establish and validate a prevention clinic (ProFam-Risk) for men with a familial or genetic risk of PCa, focusing on genetic testing, multiparametric magnetic resonance imaging (mpMRI), and psychosocial assessment. ProFam-Risk is a prospective registry and outpatient clinic at the University Hospital Düsseldorf, recruiting participants into three groups: healthy men with a familial risk (having two or more affected relatives or early-onset PCa), men with pathogenic germline variants (eg, BRCA1/2), and PCa-affected men meeting familial/genetic criteria. Participants undergo prostate-specific antigen testing, mpMRI, genetic analysis, psychosocial assessment, and receive risk-adapted recommendations for cancer prevention. Outcome measures include prevalence of pathogenic variants, PCa detection rates, and the impact of genetic counseling and mpMRI on clinical decision-making.

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