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

Nat Genet. 2012 Nov;44(11):1185-7. doi: 10.1038/ng.2419. Epub 2012 Oct 14.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Neoplasms / genetics*
  • Chordoma / genetics*
  • Exome
  • Fetal Proteins / genetics*
  • Humans
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • T-Box Domain Proteins / genetics*
  • Whites / genetics


  • Fetal Proteins
  • T-Box Domain Proteins
  • Brachyury protein