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PMID: 19801981 Published · ppublish English Journal Article Research Support, N.I.H., Intramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

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

Nature genetics ·Vol. 41 ·No. 11 ·2009-11-00 ·Pages 1176-8

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

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.

MeSH Terms

Chordoma/genetics Chromosomes, Human, Pair 6 Comparative Genomic Hybridization Fetal Proteins/genetics Gene Duplication Genetic Predisposition to Disease Genome-Wide Association Study Humans Polymorphism, Single Nucleotide T-Box Domain Proteins/genetics

Chemicals

Fetal Proteins T-Box Domain Proteins Brachyury protein

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Yang Xiaohong R

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

Ng David

Alcorta David A

Liebsch Norbert J

Sheridan Eamonn

Li Sufeng

Goldstein Alisa M

Parry Dilys M

Kelley Michael J

References (12)

12 references, click to expand

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Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1546-1718

DOI

10.1038/ng.454

Published

2009-11-00

Epub

2009-00-04

Pages

1176-8

Language

English

Region

United States

NLM ID

9216904

PMCID

PMC2901855

Subset

Grants

Intramural NIH HHS · ZIA CP005803-15 · United States

External Links

PubMed source DOI: 10.1038/ng.454 PMC Full Text View journal details

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

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