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Major Prostate Cancer Gene Mutation Identified

Family history and early diagnosis vital in understanding risk

January 12, 2012 -- Researchers at the University of Michigan, with participation from Johns Hopkins Medicine, have identified the first-ever gene mutation associated with an increased risk of developing prostate cancer. This study, published in the prestigious New England Journal of Medicine, analyzed 202 genes in 94 men with prostate cancer, to identify a recurrent mutation in the gene HOXB13. Found on a particular region on chromosome 17 known to be associated with prostate cancer susceptibility, the gene HOXB13 is responsible for controlling prostate development early in a man’s life.

Dr. Kathleen Cooney and her team at the University of Michigan Medical School found that this newly identified HOXB13 gene mutation is more frequent in men with a family history of prostate cancer, specifically those with an early onset of the disease (i.e. patients who are diagnosed before 55 years of age). Therefore, the presence of this gene mutation in men may play an important role in prostate cancer risk assessment in the future. "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," Cooney said. However, it should be noted that the HOXB13 gene mutation accounts for a very small fraction of all prostate cancers (1.4%) and its precise role in prostate cancer development still remains unknown. With additional research, and testing in a larger cohort of patients, this gene mutation may be one of a panel of genes tested to assess prostate cancer risk in the future.

Prostate cancer is known to run in families and this discovery is an important step towards understanding predisposition to prostate cancer, and may aid better diagnosis in the coming years.

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