Article
T (brachyury) gene duplication confers major susceptibility to familial chordoma.
Nature genetics - 1 Nov 2009
Yang Xiaohong R, Ng David, Alcorta David A, Liebsch Norbert J, Sheridan Eamonn, Li Sufeng, Goldstein Alisa M, Parry Dilys M, Kelley Michael J
Abstract excerpt
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...
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