A common single-nucleotide variant in T is strongly associated with chordoma.
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.
Cancer Institute, University College London, UK.
Nischalan
N
Pillay
Vincent
V
Plagnol
Patrick S
PS
Tarpey
Samira B
SB
Lobo
Nadège
N
Presneau
Karoly
K
Szuhai
Dina
D
Halai
Fitim
F
Berisha
Stephen R
SR
Cannon
Simon
S
Mead
Dalia
D
Kasperaviciute
Jutta
J
Palmen
Philippa J
PJ
Talmud
Lars-Gunnar
LG
Kindblom
M Fernanda
MF
Amary
Roberto
R
Tirabosco
Adrienne M
AM
Flanagan
D001859:Bone Neoplasms / Q000235:genetics*; D002817:Chordoma / Q000235:genetics*; D059472:Exome; D005326:Fetal Proteins / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D020825:T-Box Domain Proteins / Q000235:genetics*; D044465:White People / Q000235:genetics; D000098908:Brachyury Protein
D005326:Fetal Proteins; D020825:T-Box Domain Proteins; D000098908:Brachyury Protein