Researchers Identify Novel Genetic Variants Predictive of Prostate Cancer Risk and Severity

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Researchers have compiled a comprehensive list of genetic variants that may be associated with the risk of developing prostate cancer, according to a recent study published by Wang et al in Nature Genetics. The new findings included major increases in representation among patients from racial and ethnic groups that have often been underrepresented in prostate cancer research and updated what is known about genetic risk for the disease. 


“We’re not going to learn everything there is to know about the genetics of prostate cancer by studying only White men,” stressed co–senior study author Christopher Haiman, ScD, Professor of Population and Public Health Sciences, the AFLAC Chair in Cancer Research at the Keck School of Medicine, Director of the Center for Genetic Epidemiology, and Co-Leader of the Cancer Epidemiology Program at the Norris Comprehensive Cancer Center at the University of Southern California. “Larger and larger studies, engaging a broader spectrum of populations, are important if we’re going to identify genetic markers of risk and develop risk prediction tools that are equally effective across populations,” he added.

A previous study from 2021 identified 269 genetic variants that were correlated with the risk of prostate cancer after including 235,000 patients in the analysis.

Study Methods and Results

In the new study, a multi-institutional team of researchers from across the world compared the genomic data of 156,319 patients with prostate cancer with 788,443 controls. From the previous study, there were 87%, 45%, 43%, and 26% increases in the number of patients of African, Latino, European, and Asian descent, respectively.

The researchers combined the data from virtually every study to date examining DNA for genetic variants associated with prostate cancer risk and identified a total of 451 genetic variants.

The researchers identified 187 new genetic variants associated with the risk of prostate cancer and 150 genetic variants from previous research that were replaced by genetic variants in nearby locations on the DNA that better correlated with cancer risk after utilizing the larger, more diverse patient samples. 

With the new results, the researchers highlighted they were able to improve a system they developed for measuring genetic risk, so that it was more effective at predicting which patients were likely to develop prostate cancer and which patients of African descent were likely to experience aggressive or less serious cases.

The researchers underscored that higher risk scores based on the newly identified genetic variants correlated with more-aggressive disease in patients of African descent—a finding that may lead to improvements in early detection and more informed decisions about screening.


“It’s an important refinement to find markers that are better at capturing risk across populations. The idea of precision medicine and global medicine for all rely on including and integrating information across populations, because the best marker determined in [White patients] might not be the best marker overall,” emphasized Dr. Haiman.

The researchers noted that their new findings may have the potential to benefit human health by providing patients with personalized risk information that they can use when having discussions with their physicians about screening and treatment options. They hope that their research can lay the groundwork for genetic testing to identify those at greater risk for aggressive prostate cancer and enable early detection by screening the patients earlier and more often.

Currently, many diagnosed cases of prostate cancer might never reach the point where they are life-threatening, leading to unnecessary treatment that can degrade the patients’ quality of life. Differentiating between risk for aggressive disease may be critical to reducing these unnecessary treatments; however, up until now, the researchers’ system for calculating risk scores has correlated with the likelihood of developing prostate cancer and lacked predictive value about the severity of the cancer. 

“We’ll continue to improve this risk score and look for markers that help to distinguish aggressive from less aggressive disease. Clinical trials will be required to evaluate the effectiveness of the risk score in helping [physicians] and patients make decisions about screening,” Dr. Haiman detailed. “This [study demonstrates] what happens when the world research community comes together to make improvements for all. The fact that everyone was so willing to collaborate was enormously critical,” he concluded.

Disclosure: For full disclosures of the study authors, visit

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