Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33.

Journal Article (Journal Article)

Chordoma is a rare tumor originating from notochordal remnants that is usually diagnosed during midlife. We performed a genomewide analysis for linkage in a family with 10 individuals affected by chordoma. The maximum two-point LOD score based on only the affected individuals was 2.21, at recombination fraction 0, at marker D7S2195 on chromosome 7q. Combined analysis of additional members of this family (11 affected individuals) and of two unrelated families (one with 2 affected individuals and the other with 3 affected individuals), with 20 markers on 7q, showed a maximum two-point LOD score of 4.05 at marker D7S500. Multipoint analysis based on only the affected individuals gave a maximum LOD score of 4.78, with an approximate 2-LOD support interval from marker D7S512 to marker D7S684. Haplotype analysis of the three families showed a minimal disease-gene region from D7S512 to D7S684, a distance of 11.1 cM and approximately 7.1 Mb. No loss of heterozygosity was found at markers D7S1804, D7S1824, and D7S2195 in four tumor samples from affected family members. These results map a locus for familial chordoma to 7q33. Further analysis of this region, to identify this gene, is ongoing.

Full Text

Duke Authors

Cited Authors

  • Kelley, MJ; Korczak, JF; Sheridan, E; Yang, X; Goldstein, AM; Parry, DM

Published Date

  • August 2001

Published In

Volume / Issue

  • 69 / 2

Start / End Page

  • 454 - 460

PubMed ID

  • 11452362

Pubmed Central ID

  • PMC1235318

International Standard Serial Number (ISSN)

  • 0002-9297

Digital Object Identifier (DOI)

  • 10.1086/321982


  • eng

Conference Location

  • United States