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.