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New type of genetic change identified in inherited cancer
Date:10/4/2009

DURHAM, N.C. Duke University Medical Center and National Cancer Institute scientists have discovered that a novel genetic alteration a second copy of an entire gene is a cause of familial chordoma, an uncommon form of cancer arising in bones and frequently affecting the nervous system.

Inherited differences in gene copy number, known as copy number variation (CNV), have been implicated in some hereditary diseases but none of the previously discovered familial cancer genes has had CNV as the genetic change.

"This alteration is unlike anything we have ever seen before in families that tend to develop the same kind of cancers," says Michael Kelley, M.D., an associate professor at Duke University Medical Center and senior author of the study appearing in Nature Genetics. "We are not talking about a mutation in a single gene, but the duplication of an entire gene. This discovery is a classic example of where science answers one question but raises many, many more."

Chordoma is rare, striking only one in every million people. But it is a devastating diagnosis. People who have the disorder typically develop tumors at the base of the skull, in the pelvis, or along the spinal column. The growths are thought to arise from remnants of the notochord, an embryonic precursor to spinal column. There are few treatments and no cure for chordoma; most who have the disease usually die within 10 years.

Kelley, chief of hematology and oncology at the Durham Veterans Affairs Medical Center, has been studying chordoma for years after a collaborator at the National Cancer Institute, Dilys Parry, a co-author of the study, discovered a family with a history of the disease spanning several generations. They concluded that there had to be some sort of inherited genetic defect at work. Parry conducted clinical studies that eventually identified six additional families with multiple relatives with chordoma.

Initial work foc
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Contact: Michelle Gailiun
michelle.gailiun@duke.edu
919-660-1306
Duke University Medical Center
Source:Eurekalert

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