TY  - JOUR
AU  - Gröschel, Stefan
AU  - Hübschmann, Daniel
AU  - Raimondi, Francesco
AU  - Horak, Peter
AU  - Warsow, Gregor
AU  - Fröhlich, Martina
AU  - Klink, Barbara
AU  - Gieldon, Laura
AU  - Hutter, Barbara
AU  - Kleinheinz, Kortine
AU  - Bonekamp, David
AU  - Marschal, Oliver
AU  - Chudasama, Priya
AU  - Mika, Jagoda
AU  - Groth, Marie
AU  - Uhrig, Sebastian
AU  - Krämer, Stephen
AU  - Heining, Christoph
AU  - Heilig, Christoph
AU  - Richter, Daniela
AU  - Reisinger, Eva
AU  - Pfütze, Katrin
AU  - Eils, Roland
AU  - Wolf, Stephan
AU  - von Kalle, Christof
AU  - Brandts, Christian
AU  - Scholl, Claudia
AU  - Weichert, Wilko
AU  - Richter, Stephan
AU  - Bauer, Sebastian
AU  - Penzel, Roland
AU  - Schröck, Evelin
AU  - Stenzinger, Albrecht
AU  - Schlenk, Richard
AU  - Brors, Benedikt
AU  - Russell, Robert B
AU  - Glimm, Hanno
AU  - Schlesner, Matthias
AU  - Fröhling, Stefan
TI  - Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
JO  - Nature Communications
VL  - 10
IS  - 1
SN  - 2041-1723
CY  - [London]
PB  - Nature Publishing Group UK
M1  - DKFZ-2019-01097
SP  - 1635
PY  - 2019
AB  - Chordomas are rare bone tumors with few therapeutic options. Here we show, using whole-exome and genome sequencing within a precision oncology program, that advanced chordomas (n = 11) may be characterized by genomic patterns indicative of defective homologous recombination (HR) DNA repair and alterations affecting HR-related genes, including, for example, deletions and pathogenic germline variants of BRCA2, NBN, and CHEK2. A mutational signature associated with HR deficiency was significantly enriched in 72.7
LB  - PUB:(DE-HGF)16
C6  - pmid:30967556
C2  - pmc:PMC6456501
DO  - DOI:10.1038/s41467-019-09633-9
UR  - https://inrepo02.dkfz.de/record/143513
ER  -