Abstract
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.
Publication types
-
Research Support, N.I.H., Intramural
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, Non-P.H.S.
MeSH terms
-
Chordoma / genetics*
-
Chromosomes, Human, Pair 6
-
Comparative Genomic Hybridization
-
Fetal Proteins / genetics*
-
Gene Duplication*
-
Genetic Predisposition to Disease*
-
Genome-Wide Association Study
-
Humans
-
Polymorphism, Single Nucleotide
-
T-Box Domain Proteins / genetics*
Substances
-
Fetal Proteins
-
T-Box Domain Proteins
-
Brachyury protein