Genetic Variants Linked to Prostate Cancer

A globe-spanning scientific team has compiled the most comprehensive list of genetic variants associated with prostate cancer risk — 451 in all — through a whole-genome analysis that ranks as the largest and most diverse investigation into prostate cancer genetics yet. 

The research, led by the USC Center for Genetic Epidemiology, the Keck School of Medicine of USC and USC Norris Comprehensive Cancer Center, and in the United Kingdom by The Institute of Cancer Research, London, included major increases in representation among men from racial and ethnic groups that have often been left out of such research, revising what is known about genetic risk for the disease.

With these findings, the researchers improved a system they developed for measuring genetic risk so that it was more effective in predicting who would or wouldn’t develop prostate cancer — even distinguishing between the likelihood of aggressive and less-serious cases among men of African descent. The finding that higher risk scores based on the 451 variants correlated with more-aggressive disease in men of African ancestry is a meaningful step toward improving early detection and making better informed decisions about screening.

The study, published in Nature Genetics, builds on 2021 research documented in the same journal that found 269 genetic variants correlating with prostate cancer risk, based on a sample of nearly 235,000 men. The new results were derived from genomic information from close to 950,000 men.

The researchers compared genomic data from 156,319 prostate cancer patients with that of a control group totaling 788,443. From the previous study, there was an 87% increase in the number of prostate cancer cases included from men of African ancestry, 45% from Latino ethnicity, 43% from European ancestry and 26% from Asian ancestry.

Haiman and his colleagues found 187 new genetic variants associated with prostate cancer risk. They also found 150 genetic variants from earlier research that were replaced by variants in nearby spots on the DNA double helix that better correlated with prostate cancer risk through the lens of the larger, more diverse sample.

In addition to fueling further research, the results have the potential to benefit human health by providing men with personalized risk information that they can use when having discussions with their doctors about screening and treatment. 

Ultimately the research could lay the ground work for genetic testing to identify those at greater risk for aggressive prostate cancer and enable early detection by screening them earlier and more often.


Anqi Wang, Jiayi Shen, Alex A. Rodriguez, Edward J. Saunders, Fei Chen, Rohini Janivara, Burcu F. Darst, Xin Sheng, et al. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants. Nature Genetics, 2023; DOI: 10.1038/s41588-023-01534-4

Keck School of Medicine of USC. (2023, November 9). 187 new genetic variants linked to prostate cancer found in largest, most diverse study of its kind. ScienceDaily. Retrieved November 10, 2023 from

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