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| New Type of Genetic Change Identified in Inherited Cancer |
Duke Comprehensive Cancer Center scientists have discovered that an uncommon form of bone cancer called familial chordoma is caused by having a second copy of an entire gene.
Inherited differences in gene copy number, known as copy number variation (CNV), has been implicated in some hereditary diseases but never before in familial cancers.
"This alteration is unlike anything we have ever seen before in families that tend to develop the same kind of cancers," says Michael Kelley, MD, senior author of the study that appeared in Nature Genetics. "We are not talking about a mutation in a single gene, but the duplication of an entire gene." |
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Chordoma strikes only one in every million people. People who have the disorder typically develop tumors at the base of the skull, in the pelvis, or along the spinal column. There are few treatments and no cure for chordoma; most who have the disease usually die within ten years.
Kelley, the first researcher to have a federal grant to research chordoma, has been studying chordoma for years after a collaborator at the National Institutes of Health, Dilys Parry (a co-author of the study), came across a family with a history of the disease spanning several generations.
Using a technique called array comparative genomic hybridization, a method that allowed them to see structural changes in the genome in exquisite detail, the researchers were able to pinpoint the source of the culprit. They identified it as the T (Brachyury) gene on chromosome 6.
Investigators screened 65 individuals (21 with chordoma) in seven families with a history of the disease, specifically looking for the any alterations in the T gene. They discovered that all the patients with chordoma in four of the seven families had a second copy of the T gene. The duplication did not appear among members of the three other families; nor did it appear in 100 healthy, normal controls.
Kelley says they do not understand what Brachyury does to cause chordoma.
Kelley worked with Sufeng Li, MD, and David Alcorta, PhD, of Duke as well as researchers from the National Cancer Institute, Massachusetts General Hospital, and St. James Hospital in the United Kingdom.
The study was funded by the U.S. Department of Veterans Administration and the National Cancer Institute. |
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