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Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid

Fischer, C; Scheipl, S; Zopf, A; Niklas, N; Deutsch, A; Jorgensen, M; Lohberger, B; Froehlich, EV; Leithner, A; Gabriel, C; Liegl-Atzwanger, B; Rinner, B.
Mutation Analysis of Nine Chordoma Specimens by Targeted Next-Generation Cancer Panel Sequencing.
J Cancer. 2015; 6(10):984-989 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Autor/innen der Med Uni Graz:
Deutsch Alexander
Fischer Carina
Fröhlich-Sorger Elke
Gabriel Christian
Leithner Andreas
Liegl-Atzwanger Bernadette
Lohberger Birgit
Rinner Beate
Scheipl Susanne

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Chordoma is a rare primary malignant bone tumour. Treatment options are mainly restricted to surgical excision, since chordomas are largely resistant to conventional ionising radiation and chemotherapy. Thus, there is a strong need to gain more thorough insights into the molecular biology and genetics of chordoma to allow for the development of new therapeutic options. We performed an ultra-deep sequencing analysis to find novel mutations in cancer associated genes in chordomas to date unseen with Sanger sequencing. Nine chordomas (skull base (n=3), mobile spine (n=4), and sacrum/coccyx (n=2) were screened for mutations in 48 cancer genes using the Hot Spot Cancer Panel (Illumina). All putative mutations were compared against multiple databases (e.g. NCBI, COSMIC, PolyPhen, EGB, SIFT) and published Copy Number Variation (CNV) data for chordoma. Our results showed mutations with a frequency above 5% in tumorsuppressor- and onco-genes, revealing new possible driver genes for chordomas. We detected three different variants accounting for 11 point mutations in three cancer associated genes (KIT, KDR and TP53). None of the detected mutations was found in all samples investigated. However, all genes affected interact or are connected in pathway analysis. There were no correlations to already reported CNVs in the samples analysed. We identified mutations in the associated genes KIT, KDR, and TP53. These mutations have been described previously and have been predicted to be tolerated. Further results on a larger series are warranted. The driver mechanisms of chordoma still have to be identified.

Find related publications in this database (Keywords)
next-generation sequencing
copy number
somatic mutations
cancer panel
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