T (brachyury) gene duplication confers major susceptibility to familial chordoma.
Using high-resolution array-CGH, we identified unique duplications of a region on 6q27 in four multiplex families with at least three cases of chordoma, a cancer of presumed notochordal origin. The duplicated region contains only the T (brachyury) gene, which is important in notochord development and is expressed in most sporadic chordomas. Our findings highlight the value of screening for complex genomic rearrangements in searches for cancer-susceptibility genes.
Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Xiaohong R
XR
Yang
David
D
Ng
David A
DA
Alcorta
Norbert J
NJ
Liebsch
Eamonn
E
Sheridan
Sufeng
S
Li
Alisa M
AM
Goldstein
Dilys M
DM
Parry
Michael J
MJ
Kelley
D002817:Chordoma / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D005326:Fetal Proteins / Q000235:genetics*; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D020825:T-Box Domain Proteins / Q000235:genetics*; D000098908:Brachyury Protein
D005326:Fetal Proteins; D020825:T-Box Domain Proteins; D000098908:Brachyury Protein