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Nat Genet. 2012 Nov;44(11):1185-7. doi: 10.1038/ng.2419. Epub 2012 Oct 14.

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

Author information

1
Cancer Institute, University College London, UK.

Abstract

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 (CI) = 3.1-12.1; P = 4.4 × 10(-9)), a finding that is exceptional in cancers with a non-Mendelian mode of inheritance.

PMID:
23064415
DOI:
10.1038/ng.2419
[Indexed for MEDLINE]

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