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Two New Prostate Cancer Genes Show Increased Risk of Disease Diagnosis

April 10, 2012 -- In a truly "ecological" study, over 1,900 men from Tyrol, Austria participated in a 20-year trial that led to the discovery of two inherited genetic variations that may help identify a man’s risk of being diagnosed with aggressive prostate cancer. Prostate Cancer Foundation funding support of Drs. Mark Rubin, professor of oncology in pathology at Weill Cornell Medical College in New York City and Francesca Demichelis, assistant professor at the Center of Integrative Biology at the University of Trento in Italy supported the Tyrol Early Prostate Cancer Detection Program in Austria, as both researchers are 2011 Challenge Award recipients.

This study detected DNA that was either deleted or duplicated in a man with a genetic history of disease. Of the over 1,900 men studied, 867 had cancer and 1,036 did not. The 20-year study also identified areas of copy number variation (CNVs) on chromosomes 7, 12, 15, 19 and two on chromosome 8, identifying the importance of studying the whole genome verses those genes that code for proteins. Also through the study, the MGAT4C gene was discovered, which is a new area of interest and can better underline a man’s risk of developing metastatic or low-grade prostate cancer.

Researchers also discovered two CNVs that were significantly different between men with aggressive prostate cancer and those without cancer. In lab tests, the effect of the two inherited variants were studied, showing investigators that the variants helped cancer cells grow and invade, putting some men at four times greatest risk for prostate cancer.

Efforts are underway to see if two genes are involved in raising prostate cancer risk in other countries and demographics, including Asia and African-American men.

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