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Cancer Researchers Link DICER1 Gene Mutation to Rare Childhood Cancer
Date:6/25/2009

Finding may have implications for gene's role in other cancers

Washington, DC (Vocus) June 25, 2009 -- Research published today in Science Express from the journal Science demonstrates the first definitive link between mutations in the gene DICER1and cancer. By studying the patterns of DNA from 11 families with an unusual predisposition to the rare childhood lung cancer pleuropulmonary blastoma (PPB) investigators from Children's Natioanl Medical Center and several other institutions found that children with the cancer carried a mutation in one of their two DICER1 gene copies.

DICER1 makes an important protein that works to suppress other genes through intermediary molecules known as microRNAs. Scientists have learned that microRNAs can fine-tune the expression of many other genes, which is particularly important in normal human development. Recent research has also focused on DICER1 as having a potential role in cancer because the micro-RNA molecules it produces appear vastly different from normal when found in cancer cells; some suggest that the pattern of microRNAs in cancers resembles an embryonic stage.

"When we realized that DICER1 was in the segment of chromosome that was shared among children with PPB we were very excited," said D. Ashley Hill, MD, lead author and chief of Pathology at Children's National Medical Center. "PPB is a tumor that appears to arise out of a localized area of abnormal lung development. The implications of a defect in a master controller gene for normal
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