Biomarkers for Prostate Cancer Diagnosis from Genetic Perspectives

Document Type : Review


1 Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran

2 Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

3 Department of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran



Prostate cancers (PC) are mainly diagnosed by screening prostate-specific antigen (PSA) quantity in the blood or a digital rectal exam (DRE). PC typically does not have symptoms contrary to advanced cancers that are diagnosed due to significant symptoms. Diagnosis of PC is established with the transrectal ultrasound (TRUS) guided biopsy. Estimation of the free PSA to total PSA (fPSA/tPSA) ratio and Multiparametric-magnetic resonance imaging (mp-MRI) can expand the diagnosis accuracy. Several molecular biomarkers have improved PC diagnosis like Confirm MDx, Prostate Core Mitomic Test (PCMT), TMPRSS2-ERG, The PTEN gene, ProMark, 4K score including, and Circulating Tumor Cells (CTCs). These molecular biomarkers are considered both genetic and epigenetic (DNA methylation) hallmarks of PC. We aim to present an overview of all molecular biomarkers of PC and their implication in improving the management of PC patients.


  • Estimation of the fPSA/tPSA ratio and Multiparametric-magnetic resonance imaging (mp-MRI) can expand the prostate cancer diagnosis accuracy.
  • Several biomarkers are considered in testing panels like ConfirmMDx, Prostate Core Mitomic Test (PCMT), TMPRSS2-ERG, The PTEN gene, ProMark, 4K score.
  • Liquid biopsy components like can CTCs help the clinician to decide in the re-biopsy step.


Main Subjects

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