Talk:Notochord

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

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

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

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