Genetic Testing for Prostate Cancer?

Prostate cancer is the second most common cancer diagnosed in men in the United States, with an estimated 240,000 men being diagnosed every year.

Men with a family history of prostate cancer are at an increased risk for the disease. Those with a close relative – like a brother or father with the disease – are twice as likely to be diagnosed with it. The risk is highest for men with several relatives with the disease, particularly if those relatives were diagnosed at a young age.

Despite this known relationship, the genetic reason for hereditary prostate cancer is still not understood. But a study that was recently published in The New England Journal of Medicine, shows researchers are making important strides towards better identifying the genetic basis of prostate cancer.

Investigators from the University of Michigan and Johns Hopkins University, collaborated to identify a novel gene that was significantly associated with an increased risk of familial prostate cancer. The study screened more than 200 genes.

Looking at patterns between families with high incidences of the disease, non-familial cases, and healthy individuals, the study identified a rare, but recurrent mutation.

Initially, the mutation was identified in four families with a history of prostate cancer. Further investigation revealed that men with prostate cancer were significantly more like to carry the mutation than those without.

Only one man of the 1401 healthy control group participants was found to have this mutation. The highest rates were found in men with a familial history of prostate cancer or those that were diagnosed at an age younger than 55.

These findings represent promising research toward the identification of prostate cancer-specific markers.

The BRCA gene, used in the diagnosis of breast and ovarian cancer significantly changed the way we treat and diagnose these diseases. Patients with a known family history can get screened for the gene, allowing for early and accurate assessment of a person’s risk of developing breast or ovarian cancer. For those with the gene, closer monitoring and easier access to treatment allows for better outcomes.

Given the increasing controversy surrounding PSA screening for prostate cancer, a new diagnostic tool is desperately needed.

Now, whether this new prostate cancer gene will be that tool remains to be seen, but it is unlikely. The identified gene, while selective for familial cancer, was still rare, which is not ideal for screening the general population.

So, while we don’t expect this genetic test to be hitting the market any time soon, the hope is that by using similar techniques, we will discover a tool which determines risk for aggressive prostate cancer so we can better target treatment.

Dr. David B. Samadi is the Vice Chairman of the Department of Urology and Chief of Robotics and Minimally Invasive Surgery at the Mount Sinai School of Medicine in New York City. He is a board-certified urologist, specializing in the diagnosis and treatment of urological disease, with a focus on robotic prostate cancer treatments. To learn more please visit his websites and Find Dr. Samadi on Facebook.