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Brief Communication

Nature Genetics 41, 1176–1178 (1 November 2009) | doi:10.1038/ng.454

T (brachyury) gene duplication confers major susceptibility to familial chordoma

Xiaohong R Yang , David Ng , David A Alcorta , Norbert J Liebsch , Eamonn Sheridan , Sufeng Li , Alisa M Goldstein , Dilys M Parry & Michael J Kelley

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.