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20 year search finds first gene for inherited prostate cancer

Kathleen Blanchard's picture
First gene variant found for hereditary prostate cancer.

After a 20 year search, scientists have identified a prostate cancer gene that runs in families and leads to cancer at younger ages. The gene variant, though rare, leads to higher risk of developing the disease.

The study, which is published in the New England Journal of Medicine, was led by Johns Hopkins University School of Medicine and the University of Michigan (U-M) Health System.

“This is the first major genetic variant associated with inherited prostate cancer,” says Kathleen A. Cooney, M.D., professor of internal medicine and urology at the U-M Medical School, one of the study’s two senior authors.

William B. Isaacs, Ph.D., professor of urology and oncology at the Johns Hopkins University School of Medicine, the study’s other senior author says it has been difficult to find specific genes that boosts prostate cancer risk in families, though heredity has long been suspected.

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The discovery is the result of collaboration between the research team and John Carpten, Ph.D at the Translational Genomics Research Institute (TGen) in Phoenix, Arizona.

DNA sequencing of more than 200 genes in a human chromosome region known as 17q21-22 led the researchers to find mutation in the HOXB13 gene is associated with prostate cancer that runs in families. The gene is important for prostate gland development before birth and proper function later in life.

The researchers found four different families with the same mutation in their investigation, which included studies of 94 families with father and son or other close relatives with prostate cancer. The genetic variant for early prostate cancer was carried by 18 men with the disease in the four families.

Finding the first prostate cancer gene variant that runs in families means it will be possible to target men who would benefit from earlier prostate cancer screening. The gene variant is rare, but the authors note the discovery could also lead to more clues about how cancer develops.

"Germline Mutations in HOXB13 and Prostate-Cancer Risk"
Charles M. Ewing, M.S et al.
Janaury 12, 2012

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