NEW YORK (April 9, 2012 ) -- An international research team led by Weill Cornell Medical College investigators have discovered two inherited-genetic deletions in the human genome linked to development of aggressive prostate cancer. The findings, published online today in the Proceedings of the National Academy of Sciences (PNAS), indicate a man's risk of developing prostate cancer either triples or quadruples, depending on the genetic variant they inherit.
In the study, one genetic deletion is shown to affect the functioning of a known gene, while the other, found in a non-coding area of the genome once considered to be "junk DNA," seems to be regulating a cascade of genes. According to the lead co-authors, the study is potentially groundbreaking because it demonstrates that so-called copy number variations (CNVs) in either protein coding or non-coding areas of the human genome play a significant role in the development of cancer in general, and in aggressive prostate cancer, specifically.
"We used to think that only genes that made proteins were responsible for disease, but this study shows us that there is inherited information in the non-coding areas of the genome that appear to play a strong role in development of cancer," says study co-author, Dr. Mark A. Rubin, the Homer T. Hirst Professor of Oncology in Pathology at Weill Cornell Medical College. Other researchers have linked CNVs to Alzheimer's and Parkinson's disease, mental retardation, autism, schizophrenia and neuroblastoma, a type of brain cancer. "This study suggests there are other cancers that might be associated with CNVs," says Dr. Rubin. "It's an exciting new field of research."
"The study shows that copy number variations matter in cancer," says co-lead investigator, Dr. Francesca Demichelis, who is now an Assistant Professor at the Center of Integrative Biology at the University of Trento in Italy and an Adjunct Assistant Professor in the Institute fo
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New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College