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Nat Genet. 2009 Nov;41(11):1176-8. doi: 10.1038/ng.454. Epub 2009 Oct 4.

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

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1
Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.

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.

PMID:
19801981
PMCID:
PMC2901855
DOI:
10.1038/ng.454
[Indexed for MEDLINE]
Free PMC Article
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