Men who inherit a mutation in the HOXB13 gene have a 10 to 20 times increased risk of developing prostate cancer, according to the study in the January 12, 2012 issue of the New England Journal of Medicine. Finally, the first major gene mutation associated with an increased risk for prostate cancer has been identified.

During the fetal stage and during prostate function in later life, the HOXB13 gene plays an important role. This discovery of a gene mutation may help improve our understanding about the development of prostate cancer as well as allowing us to identify which men may require early screening for prostate cancer.

The discovery was made by a team led by investigators at the Johns Hopkins University School of Medicine and the University of Michigan Health System.

The researchers analyzed DNA from the youngest prostate cancer survivors in 94 families that had multiple cases of the Prostate cancer among close relatives. Close relatives included fathers, sons and brothers. The researchers found that members of four different families had the same mutation in the HOXB13 gene. All 18 men in those four families had the mutation.

The investigators then looked at 5,100 other men who had been treated for prostate cancer. They found that 1.4 percent (72) also had the same HOXB13 gene mutation. The men with the mutation were more likely to have at least one first-degree male relative (father or brother) who also had been diagnosed with prostate cancer.

When they looked at a control group of 1,400 men without prostate cancer, only one of the men had the mutation. The researchers also looked at data from men enrolled in studies of early-onset or familial prostate cancer. “We found that the mutation was significantly more common in men with a family history and early diagnosis compared with men diagnosed later, after age 55, without a family history. The difference was 3.1 percent versus 0.62 percent,” said Dr. Kathleen Cooney, a professor of internal medicine and urology at the University.

“It’s long been clear that prostate cancer can run in families, but pinpointing the underlying genetic basis has been challenging and previous studies have provided inconsistent results added senior author William Isaacs, a professor of urology and oncology at the Johns Hopkins University School of Medicine. While the HOXB13 gene mutation may account for only a small number of prostate cancer cases, it may provide clues about how this cancer develops and help to identify a group of men who might benefit from early or additional prostate cancer screening,” researchers said.

So, if you have have a strong familial prostate cancer history and you have children, ask your doctor if you should be screened for the mutation. If you are positive, have your children screened.

From HealthDay News, 11 January 2012

Joel T Nowak, M.A., M.S.W.