Genetic Variants Help Identify Men At Highest Risk of Prostate Cancer Interview with:

Fredrick R. Schumacher, PhD, MPH. Associate Professor, Department of Population & Quantitative Health Sciences Case Western Reserve University Cleveland

Dr. Schumacher

Fredrick R. Schumacher, PhD, MPH.
Associate Professor, Department of Population & Quantitative Health Sciences
Case Western Reserve University
Cleveland What is the background for this study? What are the main findings? 

Response: Our study examines the genetic underpinnings of prostate cancer initiation using technology to test variants across the genome. Our study focused on men of European ancestry and included over 80,000 men with prostate cancer and 60,000 men without disease. We discovered 63 novel genetic variants associated with prostate cancer risk, which increases our knowledge of prostate cancer genetic risk factors by more than 60%.

A genetic risk score created from the combination of 163 new and known prostate cancer risk variants revealed men with the highest genetic risk score are nearly seven times more likely to develop disease compared to the average man. Additionally, men with the lowest genetic risk score have a 85% risk reduction of developing prostate cancer compared to the average. Lastly, these new discoveries uncover several biological mechanisms involved in the initiation of prostate cancer. What should readers take away from your report?

Response: Although additional genetic variants associated with prostate cancer remain to be discovered our current genetic risk score demonstrates the possibility of establishing personalized screening recommendations based on an individual’s genetic risk. What recommendations do you have for future research as a result of this work?

Response: In the U.S. we have a few more hurdles to clear before a trial could be initiated. We have a multi-ethnic population and our current genetic risk model has only been validated within a population of where members are primary of European ancestry. Currently, our collaborators Drs. Christopher Haiman and David Conti at the University of Southern California are assessing the genetic risk model in several ethnic populations including African Americans, Latinos, and Asian Americans. A second hurdle is the majority of the U.S. population is PSA screened and we need to determine where the utility of our genetic risk score would be most beneficial within the current screening recommendations. Is there anything else you would like to add?

Response: Although we are still several years away before a genetic risk score would be used universally in clinical care, we could have an impact among certain high-risk segments of the population, such men with a known familial risk. 


Published: 11 June 2018
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci
Fredrick R. Schumacher,
Ali Amin Al Olama, Rosalind A. Eeles
Nature Genetics (2018)

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Last Updated on June 13, 2018 by Marie Benz MD FAAD