Scientists Find Cause Of Familial Chordoma

United Press International

October 6, 2009

DURHAM, N.C. -- U.S. scientists say they've found a genetic alteration is the cause of familial chordoma, an uncommon bone cancer that also affects the nervous system.

Duke University Medical Center and National Cancer Institute researchers said the genetic alteration -- a second copy of an entire gene -- produces inherited differences in gene copy number, known as copy number variation, that have been implicated in some hereditary diseases.

"This alteration is unlike anything we have ever seen before in families that tend to develop the same kind of cancers," said Dr. Michael Kelley, an associate professor at Duke University Medical Center and senior author of the study. "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 a rare, but devastating diagnosis. People who have the disorder typically develop tumors at the base of the skull, in the pelvis or along their spinal column. There are few treatments and no cure for chordoma. Most people with the disease usually die within 10 years.

The new research findings are detailed in the journal Nature Genetics.

Copyright 2009 by United Press International