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

EGAGenomicsIllumina Genome Analyzer II;, Illumina HiSeq 2000;https://ega-archive.org/datasets/EGAD0000100022618EGA dataset EGAD00001000226EGAA common single nucleotide variant in T is strongly associated with chordomafalseEGAS00001000188-sc-20120823 - samplesChordoma is a rare malignant bone tumor that expresses the transcription factor T. We conducted an association study of 40 patients with chordoma and 358 ancestry-matched, unaffected individuals with replication in an independent cohort. Whole-exome and Sanger sequencing of T exons reveals a strong risk association ( allelic odds ratio (OR) = 4.9, P = 3.3x10-11, CI= 2.9-8.1) with the common (minor allelic frequency >5%) non-synonymous SNP rs2305089 in chordoma, which is exceptional in cancer genetics.2017-07-26 15:39:24EGAD000010002269606EGAC00001000000EGAS00001000188