Genetic Testing and Imaging in Men with Familial History or Genetic Predisposition of Prostate Cancer-Introducing the Prospective "ProFam-Risk" Study.
Jale Lakes, Matthias Boschheidgen, Gerald Antoch, Maike K Klett, André Karger, Regina Roth, Silke Redler, Mangalore G Pai, Dagmar Wieczorek, Bernadette Jäger, Tanja N Fehm, Günter Niegisch, Tilman T Rau, Peter Albers
Abstract
Open AccessFamilial 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.