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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

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

Published Date

  • November 2009

Published In

Volume / Issue

  • 41 / 11

Start / End Page

  • 1176 - 1178

PubMed ID

  • 19801981

Pubmed Central ID

  • PMC2901855

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.454


  • eng

Conference Location

  • United States