Research from an international team led by the Center for Genetic Epidemiology at the Keck School of Medicine of USC has identified genetic variants linked to aggressive prostate cancer in individuals of African descent. The study, published in the journal European Urology, analyzed data from over 12,000 Black men across North America and Africa, revealing significant insights that could enhance screening and treatment strategies for this at-risk population.
The researchers focused on five specific genes: ATM, BRCA2, CHEK2, HOXB13, and PALB2. Variants of these genes were associated with a higher likelihood of developing aggressive prostate cancer or cancer that metastasizes to other organs. Participants with disease-causing variants had up to six times the risk of developing prostate cancer compared to those without such variants.
Insights into Genetic Risk Factors
The study included more than 7,000 prostate cancer cases and a control group of nearly 5,000. By expanding on previous research that examined genetic risk factors in other populations, the scientists aimed to better understand the unique genetic landscape related to prostate cancer in those of African ancestry. Dr. Fei Chen, the study’s first author, emphasized the need for tailored approaches, stating, “Our goal is to better understand risk and help reduce the disparity in prostate cancer outcomes.”
The researchers combined the genetic data with existing risk assessment methods, notably the polygenic risk score. This score incorporates 451 common gene variants associated with prostate cancer. By integrating this with family history and the presence of variants in the five key genes, they created a more precise risk model. This blended approach showed promise in identifying individuals at the highest risk for aggressive disease.
Implications for Screening and Treatment
The findings suggest that personalized screening strategies could significantly improve early detection rates. Currently, the National Comprehensive Cancer Network recommends prostate cancer screening to begin at age 45, with a lower threshold of 40 for individuals in high-risk groups, including Black men. Dr. Chen noted, “Combining the information can actually produce a more accurate risk estimate,” potentially enabling healthcare providers to detect prostate cancer at earlier stages when treatment is most effective.
This individualized approach also aims to reduce unnecessary biopsies and the overtreatment of slow-growing tumors that pose minimal risk. “People at low risk for aggressive disease may never have prostate cancer, or they may have a prostate cancer that will never have any great impact on their life,” said Dr. Chen, advocating for a balanced approach to screening.
The researchers continue to investigate additional genetic factors associated with prostate cancer in Black patients, focusing on connections to aggressive and metastatic disease. The polygenic risk score is currently being tested in clinical trials, with future research anticipated to validate the role of family history and genetic variants in risk assessments.
By addressing the genetic disparities in prostate cancer risk, this study represents a significant advancement in the pursuit of equitable healthcare outcomes. With ongoing research, there is hope that more accurate risk assessments will lead to better prevention strategies and improved survival rates for patients of African descent.
