Journal
NATURE GENETICS
Volume 41, Issue 11, Pages 1176-1178Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.454
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Funding
- US National Cancer Institute, Division of Cancer Epidemiology and Genetics
- National Institutes of Health
- Department of Veterans Affairs, Veterans Health Administration
- Office of Research and Development, Biomedical Laboratory Research and Development program
- Chordoma Foundation
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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.
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