Integrating molecular diagnostics for early prostate cancer detection.

[INTRODUCTION] Prostate cancer (PCa) is one of the most common malignancies in men and accurate diagnostic tools are needed for early detection and risk stratification. Standard diagnostic modalities have limitations including low specificity, overdiagnosis, and procedural invasiveness. We investigate the utility of molecular diagnostics, restriction fragment length polymorphism (RFLP) for identifying mutations in genes that predispose to PCa.

[METHODS] The present prospective case-control study included 136 participants (66 cases and 70 controls). DNA was extracted for the evaluation of specific BRCA1, BRCA2, HOXB13, RNASEL, and ELAC2 single nucleotide polymorphisms (SNPs) using PCR-RFLP.

[RESULT] The association of BRCA2 (rs80359550) and HOXB13 (rs9900627) mutations with the risk of developing PCa was statistically significant ( < 0.0001 and = 0.0139, respectively) and the odds ratios confirmed a strong genetic susceptibility.

[DISCUSSION] Our findings further underscore the relevance of RFLP-based genotyping as an affordable substitute for NGS, in light of limited accessibility in many resource-limited settings.

[CONCLUSIONS] Integrating genetic, molecular, or imaging readouts with additional imaging modalities, such as mpMRI offers opportunities for improved diagnostic accuracy and conceivable tailored treatment approaches. Larger multiethnic studies are needed to confirm these findings and define a genetic screening protocol for PCa.