The Role of Genetic Polymorphisms in the Diagnosis and Management of Prostate Cancer: An Update

Abstract Prostate cancer (PCa) is the most common non-cutaneous tumor among men worldwide and, if diagnosed late, it exhibits a high mortality representing the sixth most lethal tumor in men. The main method to detect PCa is the prostate-specific antigen (PSA) level followed by direct rectal examination (DRE). Unfortunately, the PSA test has limited accuracy, as it does not provide information on disease outcome leading to the overtreatment of benign tumors. Thus, PSA analysis does not allow for stratifying PCa patients in high or low risk groups for disease recurrence or distant metastasis. Currently, the detection of several genetic markers might improve the risk stratification, addressing patients with PCa to the best therapeutic option. Here we describe the current clinical practice for PCa patients, the possible genetic polymorphisms associated with diagnosis, prognosis and therapy response as well as variants linked to familial PCa. The use of genetic markers could be routinely introduced in clinical practice leading to improvements in the management of PCa.