Article
The TBXT rs2305089 SNP links the benign notochordal cell tumour and chordoma.
The Journal of pathology - 1 Jul 2025
Usher Inga, O'Donnell Paul, Ligammari Lorena, Harder Dorothee, Brown Wendy, Choi David, Cool Paul, Cottone Lucia, Flanagan Adrienne M
Abstract excerpt
The aim of this research was to investigate the pathogenesis of the bone cancer chordoma and the role of the germline rs2305089 SNP in TBXT. Using medical imaging and genotyping studies, we observed that benign notochordal cell tumours (BNCTs) were associated with chordomas and with the variant rs2305089 A-allele with enrichment of the AA genotype compared to controls. We engineered in vitro mesoderm models,...
Topics
Join the communities discussing this publication.