期刊
NATURE GENETICS
卷 44, 期 11, 页码 1185-1187出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2419
关键词
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资金
- Skeletal Cancer Action Trust (SCAT), UK
- Pathological Society
- Chordoma Foundation
- Rosetrees Foundation
- Wellcome Trust Sanger Institute [98051]
- UCL Experimental Cancer Centre
- Medical Research Council [MC_U123160651] Funding Source: researchfish
- MRC [MC_U123160651] Funding Source: UKRI
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 (Cl) = 3.1-12.1; P = 4.4 x 10(-9)), a finding that is exceptional in cancers with a non-Mendelian mode of inheritance.
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