HOXB13 gene mutation linked to familial prostate cancer risk

Jan 19 2012

The quest for genetic information in the fight against prostate cancer is nearly two decades long. While researchers and doctors have long accepted the hereditary nature of the disease, in that closer relatives are at a two-fold increased risk of developing prostate cancer, the genetic explanation remained a mystery. Last week geneticists shared news of a novel gene mutation linked to familial prostate cancer risk. The isolated mutation was identified within the gene HOXB13 and was found at higher rates in patients with a strong family history of the disease, particularly those with early-onset prostate cancer. This news could have significant impact on prostate cancer treatment, believes robotic prostate surgery expert, Dr. David Samadi.  

Dr. Samadi, Vice Chairman, Department of Urology, and Chief of Robotics and Minimally Invasive Surgery at The Mount Sinai Medical Center, spoke Sunday with members of the Fox News Medical A Team about the significance of these findings. "This is a faulty gene found in those with familial prostate cancer," explained Dr. Samadi. "Its identification marks a future indicator of a man's likelihood to inherit his father's or brother's increased prostate cancer risk."

HOXB13, represents a gene that affects prostate gland development in the fetal stage and it's functioning throughout life. The isolated mutation was common among early-onset prostate cancer patients with a family history of the disease. Although consistently isolated in men with prostate cancer, the gene was still relatively rare. The hope is that this mutation can be used as a lead point to isolate a common genetic pathway for prostate cancer.

Specifically, researchers believe that men with both the gene and a father with early-onset prostate cancer are 20 times more likely to have early-onset themselves. Men with the gene and two brothers with the disease are 30 times more likely. Diagnosis before age 55 is considered early-onset.

The revelation of this genetic mutation appears to be the beginning of cracking the prostate cancer code. "This is the kind of progress we need to hone our PSA screening methodology and pinpoint the men most at risk," Dr. Samadi stated. "The more knowledge a man has about his risk level, the better equipped he is to face the disease head-on. Identifying this gene mutation could allow us to pay heightened attention to younger men at higher risk and provide a better standard of care."

Published in the January 12 issue of the New England Journal of Medicine, the study looked at 94 families with multiple prostate cancer cases among close relatives. The data, explored at Johns Hopkins University and the University of Michigan, found the HOXB13 genetic mutation in members of four different families.

In order to evaluate the level to which these findings could be generalized, the mutation's prevalence was analyzed among 5,100 men with sporadic prostate cancer and 1,400 cancer-free men. The mutation was found at statistically significant rates in the larger prostate cancer patient pool, while only one man in the control group carried the mutation.

"In the future, I see genetics playing a major role in treatment decisions. If a patient knows he has a particular mutation, it could lead to earlier diagnosis and identification of aggressive diseases, translating into clear treatment decisions," added Dr. Samadi. As the leading robotic oncologist, Dr. Samadi believes that, when appropriate, robotic prostatectomy is the most precise and effective way to eliminate prostate cancer.

These genetic findings are in their early stages and further research is needed to ascertain the degree to which the gene mutation signals prostate cancer risk. In time, the impact on screening efforts could mirror that of the BRCA gene in women with a hereditary risk of early-onset breast cancer.

"We've made great strides in testing and treating prostate cancer, but this represents major headway in determining the root of the disease. The implications for the future of prostate cancer are monumental," heralded Dr. Samadi.

SOURCE RoboticOncology.com