Brief Communication abstract
Nature Genetics 41, 1176 - 1178 (2009)
Published online: 4 October 2009 | doi:10.1038/ng.454
T (brachyury) gene duplication confers major susceptibility to familial chordoma
Xiaohong R Yang1,6, David Ng1,6, David A Alcorta2, Norbert J Liebsch3, Eamonn Sheridan4, Sufeng Li2,5, Alisa M Goldstein1, Dilys M Parry1 & Michael J Kelley2,5
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.
- Genetic Epidemiology Branch, Division of Cancer Epidemiology & Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.
- Department of Medicine, Duke University Medical Center, Durham, North Carolina, USA.
- Department of Radiation Oncology, Massachusetts General Hospital, Boston, Massachusetts, USA.
- St. James University Hospital, Leeds, UK.
- Durham Veterans Affairs Medical Center, Durham, North Carolina, USA.
- These authors contributed equally to this work.
Correspondence to: Dilys M Parry1 e-mail: parryd@mail.nih.gov
