Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.

doi:10.1007/s00439-014-1463-z

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Article

Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma.

Human genetics - 1 Oct 2014

Kelley Michael J, Shi Jianxin, Ballew Bari, Hyland Paula L, Li Wen-Qing, Rotunno Melissa, Alcorta David A, Liebsch Norbert J, Mitchell Jason, Bass Sara, Roberson David, Boland Joseph, Cullen Michael, He Ji, Burdette Laurie, Yeager Meredith, Chanock Stephen J, Parry Dilys M, Goldstein Alisa M, Yang Xiaohong R

Abstract excerpt

Chordoma is a rare bone cancer that is believed to originate from notochordal remnants. We previously identified germline T duplication as a major susceptibility mechanism in several chordoma families. Recently, a common genetic variant in T (rs2305089) was significantly associated with the risk of sporadic chordoma. We sequenced all T exons in 24 familial cases and 54 unaffected family members from eight...

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PMID: 24990759
DOI: 10.1007/s00439-014-1463-z
PMCID: PMC6938388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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