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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

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.[1]

References

  1. T (brachyury) gene duplication confers major susceptibility to familial chordoma. Yang, X.R., Ng, D., Alcorta, D.A., Liebsch, N.J., Sheridan, E., Li, S., Goldstein, A.M., Parry, D.M., Kelley, M.J. Nat. Genet. (2009) [Pubmed]
 
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