Researchers find first major gene mutation associated with hereditary prostate cancer risk

After a 20-year quest to find a genetic driver for prostate cancer that strikes men at younger ages and runs in families, researchers have identified a rare, inherited mutation linked to a significantly higher risk of the disease.

Kathleen Cooney, M.D.

Kathleen Cooney, M.D.

A report on the discovery, published in the January 12, 2012 issue of the New England Journal of Medicine, was led by investigators at the Johns Hopkins University School of Medicine and the University of Michigan Health System. The research team found that men who inherit this mutation have a 10 to 20 times higher risk of developing prostate cancer.

While accounting for only a small fraction of all prostate cancer cases, the discovery may provide important clues about how this common cancer develops and help to identify a subset of men who might benefit from additional or earlier screening. This year, an estimated 240,000 men in the United States will be diagnosed with prostate cancer.

“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. Continue reading