A groundbreaking study from an international team led by the Center for Genetic Epidemiology at the Keck School of Medicine of USC has identified five key genes associated with aggressive prostate cancer in individuals of African descent. This research, published in the journal European Urology, aims to enhance screening and treatment approaches for this population, which has historically faced higher risks of severe disease and mortality.
The study analyzed data from more than 12,000 Black men across North America and Africa, including over 7,000 prostate cancer cases and nearly 5,000 control samples. The researchers discovered variants in five genes—ATM, BRCA2, CHEK2, HOXB13, and PALB2—that significantly increase the likelihood of developing aggressive forms of prostate cancer. Participants carrying variants of these genes were up to six times more likely to face prostate cancer compared to those without such variants.
The findings underscore the importance of personalized risk assessment. By integrating genetic data with existing risk evaluation methods, the research team introduced a new approach to identify individuals at the greatest risk for aggressive disease. This combines a polygenic risk score, developed by Christopher Haiman, ScD, which considers 451 common gene variants associated with prostate cancer, alongside family history and the presence of specific gene variants.
Understanding the Implications for Screening and Treatment
The implications of this study could lead to more effective screening strategies for high-risk individuals. Current recommendations from the National Comprehensive Cancer Network suggest prostate cancer screening should commence at age 45, dropping to age 40 for Black individuals and those with relevant genetic mutations or family histories.
Dr. Fei Chen, the study’s lead author, emphasized the need for a more individualized approach. “Combining the information we have can produce a more accurate risk estimate,” she stated. This advancement could help doctors detect prostate cancer earlier, improving treatment outcomes and potentially reducing unnecessary biopsies and over-treatment of indolent tumors.
The study highlighted a wide range of risk among participants, revealing that those with a family history of prostate cancer and high polygenic risk scores faced significantly elevated odds. In fact, these patients were seven times more likely to develop prostate cancer, 18 times more likely to experience aggressive disease, and 34 times more likely to have metastatic cancer compared to individuals at average risk.
Continuing Research Efforts
Recognizing the disparities in prostate cancer outcomes among Black patients, this research represents a significant step toward addressing these inequalities. The team is committed to further investigations of genetic factors linked to prostate cancer in this demographic. The polygenic risk score is currently being tested in clinical trials, with future studies focusing on validating the role of family history and genetic variants in refining risk assessments.
Ultimately, this research could pave the way for enhanced screening protocols and treatment options tailored to individuals most at risk, aiming to improve survival rates and quality of life for those affected by prostate cancer. With continued efforts in this area, there is hope for more equitable health outcomes in the fight against this disease.
