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2 genetic deletions in human genome linked to the development of aggressive prostate cancer
Date:4/9/2012

r Computational Biomedicine at Weill Cornell Medical College.

The two genetic variants identified by the research team are not the only cause of aggressive prostate cancer, Dr. Demichelis says. "These variants likely collaborate with other factors early in a man's life leading to development of prostate cancer."

Prostate cancer affects one in six men during their lifetime, and family history is the strongest risk factor for prostate cancer. Because of the inheritable nature of the disease, for the study Weill Cornell researchers hunted to find DNA that is either significantly deleted or duplicated in the genome of patients with prostate cancer to compare it to men without the disease.

In this collaboration between Weill Cornell Medical College, the Brigham and Women's Hospital and Innsbruck University Hospital, researchers examined blood samples from a population of men from the Tyrol Early Prostate Cancer Detection Program in Austria. Since 1993, this program has been aggressively screening men, age 45-75, who live in the Tyrol region with prostate specific antigen (PSA) in order to detect prostate cancer as early as possible. The population includes men who developed prostate cancer as well as men with elevated PSA who have no prostate cancer based on a biopsy. In addition, researchers looked at the germline variation in these patients to see if there is a risk factor as to why some men with elevated PSA have prostate cancer and some men do not.

Molecular studies were performed in the U.S. on more than 1900 blood samples from Tyrolean men (867 unrelated cancer patients and 1,036 controls). Researchers discovered two CNVs that were significantly different between Tyrolean individuals with aggressive prostate cancer and those without cancer, and then reproduced that finding in another group of 800 U.S. patients. The researchers then tested the effect of the two variants in laboratory cells and discovered they increase the abilit
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Contact: Lauren Woods
law2014@med.cornell.edu
212-821-0560
New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College
Source:Eurekalert

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