For the first time ever, scientists have identified a specific genetic risk factor that, when present, significantly increases the chances that an individual will develop chordoma. This discovery – a milestone outcome of the Chordoma Foundation’s significant investment in the Chordoma Genome Project over the past three years – provides unprecedented insight into how chordoma forms, and potentially how to effectively treat it.
A team of scientists at University College London (UCL), Royal National Orthopedic Hospital (RNOH), and the Sanger Institute found that over 95% of Caucasian chordoma patients have a variation (an A substituted for a G) in the DNA sequence at a particular site on the brachyury gene (also known as the T gene).
The study found that people with the A version of the brachyury gene are just over five times more likely to develop chordoma than the general population. The increase in risk of developing chordoma caused by this single letter change in the DNA sequence of brachyury comes close to the increase in risk of developing breast cancer caused by mutations in the BRCA1 and BRCA2 genes.
The groundbreaking discovery will be published in the high-profile scientific journal Nature Genetics. An electronic version of the paper is accessible online ahead of publication: http://dx.doi.org/10.1038/ng.241
Read more at the Chordoma Foundation's website