Genetic Testing Offers a Cost-Effective Tool for Early Prostate Cancer Detection
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June 18, 2025“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.”
BUFFALO, NY — June 18, 2025 — A new research paper was published in Volume 12 of Oncoscience on May 26, 2025, titled “Integrating molecular diagnostics for early prostate cancer detection.”
In this study, led by Pankaja B. Umarane from KLES Dr. Prabhakar Kore Hospital and MRC and KLE Academy of Higher Education and Research (Deemed-to-be-University), researchers investigated how specific gene mutations contribute to prostate cancer (PCa) risk. They found that low-cost genetic testing methods can effectively detect BRCA2 and HOXB13 mutations, which are strongly linked to increased chances of developing prostate cancer. These findings are especially important for early diagnosis in regions with limited access to advanced medical technologies.
Prostate cancer is one of the most common cancers in men. Current diagnostic tools, such as prostate-specific antigen (PSA) blood tests and biopsies, can lead to overdiagnosis and invasive procedures. This study evaluated a simpler genetic method, PCR-Restriction Fragment Length Polymorphism (PCR-RFLP), as a practical alternative. Compared to next-generation sequencing (NGS), PCR-RFLP is both affordable and more accessible, making it suitable for broader clinical use.
The study included 136 men, of whom 66 had prostate cancer and 70 were controls. Genetic analysis focused on five genes known to influence prostate cancer risk: BRCA1, BRCA2, HOXB13, RNASEL, and ELAC2. Only BRCA2 and HOXB13 showed a strong statistical association with cancer. Men carrying BRCA2 mutations were over ten times more likely to have prostate cancer, while HOXB13 mutations presented an even higher risk. While no significant results were found for BRCA1, RNASEL, or ELAC2, the identification of BRCA2 and HOXB13 as reliable genetic markers points to a clear direction for future screening strategies.
“The association of BRCA2 (rs80359550) and HOXB13 (rs9900627) mutations with the risk of developing PCa was statistically significant (p < 0.0001 and p = 0.0139, respectively) and the odds ratios confirmed a strong genetic susceptibility.”
The significance of these findings lies in the potential for early detection. Most prostate cancer cases in the study showed a strong family history and higher levels of PSA. When used alongside imaging tools like magnetic resonance imaging (MRI), these genetic markers can help clinicians identify high-risk individuals earlier and more accurately. This may also reduce the need for unnecessary biopsies and enable more personalized treatment plans.
This study supports the broader adoption of precision medicine in prostate cancer care. By making genetic screening more accessible, even in low-resource settings, healthcare providers can better identify at-risk patients and tailor interventions. Further studies involving larger and more diverse populations will be essential to confirm these findings and guide the development of global screening protocols.
Continue reading: DOI: https://doi.org/10.18632/oncoscience.620
Correspondence to: Pankaja B. Umarane – pinkyumarane123@gmail.com
Keywords: cancer, prostate cancer, PCR-RFLP, genetic biomarkers, molecular diagnostics, genes
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