First Major 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. 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 (U-M) 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 Dr. Kathleen A. Cooney, professor of internal medicine and urology at the U-M Medical School, one of the study’s two senior authors. “It’s what we’ve been looking for over the past 20 years,” adds Dr. William B. Isaacs, professor of urology and oncology at the Johns Hopkins University School of Medicine, the study’s other senior author. “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.” For this study, the researchers collaborated with Dr. John Carpten, at the Translational Genomics Research Institute (TGen) in Phoenix, Arizona, who used the latest technology to sequence the DNA of more than 200 genes in a human chromosome region known as 17q21-22. Dr. Cooney, working with Dr.
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