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    Nat Genet. 2009 Nov;41(11):1176-8. Epub 2009 Oct 4.

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

    Yang XR, Ng D, Alcorta DA, Liebsch NJ, Sheridan E, Li S, Goldstein AM, Parry DM, Kelley MJ.

    Source

    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
    [PubMed - indexed for MEDLINE]
    PMCID: PMC2901855
    Free PMC Article

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