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

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

Nature genetics (2009-10-06)
Xiaohong R Yang, David Ng, David A Alcorta, Norbert J Liebsch, Eamonn Sheridan, Sufeng Li, Alisa M Goldstein, Dilys M Parry, Michael J Kelley
PMID19801981
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.