A common single-nucleotide variant in T is strongly associated with chordoma.

doi:10.1038/ng.2419

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Article

A common single-nucleotide variant in T is strongly associated with chordoma.

Nature genetics - 1 Nov 2012

Pillay Nischalan, Plagnol Vincent, Tarpey Patrick S, Lobo Samira B, Presneau Nadège, Szuhai Karoly, Halai Dina, Berisha Fitim, Cannon Stephen R, Mead Simon, Kasperaviciute Dalia, Palmen Jutta, Talmud Philippa J, Kindblom Lars-Gunnar, Amary M Fernanda, Tirabosco Roberto, Flanagan Adrienne M

Abstract excerpt

Chordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 individuals with chordoma and 358 ancestry-matched controls, with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons showed strong association of the common nonsynonymous SNP rs2305089 with chordoma risk (allelic odds ratio (OR) = 6.1, 95% confidence interval...

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PMID: 23064415
DOI: 10.1038/ng.2419

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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