Risk Factors for Chordomas

There are no known environmental, dietary or lifestyle risk factors. Several genetic risk factors listed below are associated with chordoma. 

Brachyury SNP

The vast majority of chordomas are sporadic, meaning that they occur at random, and not as a direct result of an inherited genetic change. However, nearly all patients who develop sporadic chordoma harbor a genetic variant called a SNP in a gene called brachyury . This SNP causes a substantial increase in the risk of developing chordoma, but does not by itself cause chordoma. To use a metaphor, the brachyury SNP loads the gun but something else pulls the trigger. A large fraction of the general population has this SNP but individuals who have the SNP are still very unlikely to develop chordoma. 

Brachyury duplication

Very rarely, multiple members of the same family are affected by chordoma, indicating that in some cases a strong genetic predisposition for chordoma can be inherited. Some families with familial chordoma have an extra copy of a gene called brachyury.  Currently, there is no available test for the presence of extra copies of the brachyury gene.

Tuberous Sclerosis Complex

Chordomas have been reported at a higher incidence in children with the genetic disease Tuberous Sclerosis Complex  (TSC).Changes in either of two genes involved in Tubersous Sclerosis Complex (TSC1 and TSC2) can cause a predisposition to developing chordoma.