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

Pillay, N; Plagnol, V; Tarpey, PS; Lobo, SB; Presneau, N; Szuhai, K; Halai, D; (2012) A common single-nucleotide variant in T is strongly associated with chordoma. Nat Genet , 44 (11) pp. 1185-1187. 10.1038/ng.2419.

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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.

Type: Article
Title: A common single-nucleotide variant in T is strongly associated with chordoma.
Location: United States
DOI: 10.1038/ng.2419
Keywords: Bone Neoplasms, Chordoma, European Continental Ancestry Group, Exome, Fetal Proteins, Humans, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, T-Box Domain Proteins
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Neurology
UCL > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of)
UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
UCL > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
URI: http://discovery.ucl.ac.uk/id/eprint/1371176
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