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. © 2012 Nature America, Inc. All rights reserved.
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Pillay, N., Plagnol, V., Tarpey, P. S., Lobo, S. B., Presneau, N., Szuhai, K., … Flanagan, A. M. (2012). A common single-nucleotide variant in T is strongly associated with chordoma. Nature Genetics, 44(11), 1185–1187. https://doi.org/10.1038/ng.2419
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