Rare Germline Variants in Chordoma-Related Genes and Chordoma Susceptibility.

ABSTRACT:

Background

Chordoma is a rare bone cancer with an unknown etiology. TBXT is the only chordoma susceptibility gene identified to date; germline single nucleotide variants and copy number variants in TBXT have been associated with chordoma susceptibility in familial and sporadic chordoma. However, the genetic susceptibility of chordoma remains largely unknown. In this study, we investigated rare germline genetic variants in genes involved in TBXT/chordoma-related signaling pathways and other biological processes in chordoma patients from North America and China.

Methods

We identified variants that were very rare in general population and internal control datasets and showed evidence for pathogenicity in 265 genes in a whole exome sequencing (WES) dataset of 138 chordoma patien

SUBMITTER: Yepes S 

PROVIDER: S-EPMC8197919 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature