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Defective homologous recombination DNA repair as therapeutic target in advanced chordoma

9 Apr 2019

Abstract excerpt

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,...

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PMID: 30967556
DOI: 10.1038/s41467-019-09633-9

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