A common single-nucleotide variant in T is strongly associated with chordoma
Menée sur 40 patients atteints d'un chordome et 358 témoins apparentés, cette étude met en évidence une association entre un polymorphisme à simple nucléotide du gène du facteur de transcription T et le risque de chordome
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.