Matches in SemOpenAlex for { <https://semopenalex.org/work/W3127588932> ?p ?o ?g. }
- W3127588932 abstract "Chordoma is a rare bone tumor with an unknown etiology and high recurrence rate. Here we conduct whole genome sequencing of 80 skull-base chordomas and identify PBRM1, a SWI/SNF (SWItch/Sucrose Non-Fermentable) complex subunit gene, as a significantly mutated driver gene. Genomic alterations in PBRM1 (12.5%) and homozygous deletions of the CDKN2A/2B locus are the most prevalent events. The combination of PBRM1 alterations and the chromosome 22q deletion, which involves another SWI/SNF gene (SMARCB1), shows strong associations with poor chordoma-specific survival (Hazard ratio [HR] = 10.55, 95% confidence interval [CI] = 2.81-39.64, p = 0.001) and recurrence-free survival (HR = 4.30, 95% CI = 2.34-7.91, p = 2.77 × 10-6). Despite the low mutation rate, extensive somatic copy number alterations frequently occur, most of which are clonal and showed highly concordant profiles between paired primary and recurrence/metastasis samples, indicating their importance in chordoma initiation. In this work, our findings provide important biological and clinical insights into skull-base chordoma." @default.
- W3127588932 created "2021-02-15" @default.
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- W3127588932 date "2021-02-03" @default.
- W3127588932 modified "2023-10-15" @default.
- W3127588932 title "Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival" @default.
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- W3127588932 doi "https://doi.org/10.1038/s41467-021-21026-5" @default.
- W3127588932 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7859411" @default.
- W3127588932 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33536423" @default.
- W3127588932 hasPublicationYear "2021" @default.
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