%0 Journal Article
%A Gröschel, Stefan
%A Hübschmann, Daniel
%A Raimondi, Francesco
%A Horak, Peter
%A Warsow, Gregor
%A Fröhlich, Martina
%A Klink, Barbara
%A Gieldon, Laura
%A Hutter, Barbara
%A Kleinheinz, Kortine
%A Bonekamp, David
%A Marschal, Oliver
%A Chudasama, Priya
%A Mika, Jagoda
%A Groth, Marie
%A Uhrig, Sebastian
%A Krämer, Stephen
%A Heining, Christoph
%A Heilig, Christoph
%A Richter, Daniela
%A Reisinger, Eva
%A Pfütze, Katrin
%A Eils, Roland
%A Wolf, Stephan
%A von Kalle, Christof
%A Brandts, Christian
%A Scholl, Claudia
%A Weichert, Wilko
%A Richter, Stephan
%A Bauer, Sebastian
%A Penzel, Roland
%A Schröck, Evelin
%A Stenzinger, Albrecht
%A Schlenk, Richard
%A Brors, Benedikt
%A Russell, Robert B
%A Glimm, Hanno
%A Schlesner, Matthias
%A Fröhling, Stefan
%T Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.
%J Nature Communications
%V 10
%N 1
%@ 2041-1723
%C [London]
%I Nature Publishing Group UK
%M DKFZ-2019-01097
%P 1635
%D 2019
%X 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
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:30967556
%2 pmc:PMC6456501
%R 10.1038/s41467-019-09633-9
%U https://inrepo02.dkfz.de/record/143513