<p>Chordoma is a rare tumor that is believed to develop from notochord remnants. We previously identified germline duplication of the <a href="https://www.ncbi.nlm.nih.gov/gene/6862">TBXT gene</a> as a major susceptibility mechanism in several chordoma families. Currently, we are using whole exome sequencing to identify additional susceptibility genes in chordoma families without <a href="https://www.ncbi.nlm.nih.gov/gene/6862">TBXT</a> duplication as well as in sporadic cases.</p>

Exome Sequencing of Chordoma Cases

Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma

Clinical findings in families with chordoma with and without T gene duplications and in patients with sporadic chordoma reported to the Surveillance, Epidemiology, and End Results program.

Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma

Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility