Hereditary Prostate Cancer

Are you or a loved one at risk for prostate cancer? Learn more about how the experts at the Johns Hopkins Precision Medicine Center of Excellence for Prostate Cancer can help you and your loved ones manage risk and battle prostate cancer.

In 1992, William Isaacs and other researchers at the Brady Urological Institute were the first to establish an undeniable link between a family history of prostate cancer and a man's risk of developing the disease, and to characterize the distinct phenomenon of Hereditary Prostate Cancer (HPC). We proved that prostate cancer, like other cancers, can be inherited - a fact once widely doubted.


Since that time we have assembled one of the largest collections of families with hereditary prostate cancer and have characterized a number of chromosomal sites where the genes responsible may be located.  In 2012, in collaboration with investigators from the University of Michigan, we identified the first mutation responsible for hereditary prostate cancer in families – HOXB13.  We are continuing to pursue other genes that may turn out to be informative and are anxious to enroll families with multiple affected members.  

An estimated 250,000 American men may carry one of these defective genes; in these men, the odds of developing prostate cancer are extremely high. Having identified this mutation we have have a powerful tool to spot cancer early in men who have inherited this potentially lethal mutation. Also, discovering how this mutated gene triggers the cascade of prostate cancer may help us find new ways of preventing or treating the disease in all men. Although only about 10 percent of all cases of prostate cancer are thought to be purely hereditary, we believe that the defective gene or mechanisms involved in HPC are the same ones that somehow go askew in "sporadic" cancer (disease that just develops over the course of a lifetime - the kind most men get.) Here, as well, we have a one-of-a-kind resource - our pool of 2,500 families with HPC whose DNA may help us crack the genetic code of prostate cancer.


Hereditary Prostate Cancer Study

The Johns Hopkins Department of Urology is actively recruiting families with familial prostate cancer and benign prostate enlargement in an effort to identify genetic determinants of these diseases. Clinical information of interest to physicians and patients is also included below.

The importance of asking about a family history of prostate cancer
The Department of Urology strongly encourages clinicians to take a family history of prostate cancer from each adult patient, as a positive family history markedly increases the risk of prostate cancer in first degree male relatives. For example, a patient with a father or brother with prostate cancer has two times the usual risk of developing prostate cancer. A man with both his father and brother affected with prostate cancer has almost a 50% chance of developing the disease. In addition, in such families prostate cancer occurs at an earlier age. At this time, our recommendation is that men with more than one first degree relative affected (father or brother) should be encouraged to undergo yearly digital rectal exam and yearly serum prostate specific antigen (PSA) beginning at age 40.

We are currently performing genetic studies in families with strong family histories of prostate cancer and benign prostate enlargement. If a patient is interested in learning more about our studies, please contact us by email: .


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