Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

doi:10.1038/ncomms9940

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Article

Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Nature communications - 3 Dec 2015

Kovac Michal, Blattmann Claudia, Ribi Sebastian, Smida Jan, Mueller Nikola S, Engert Florian, Castro-Giner Francesc, Weischenfeldt Joachim, Kovacova Monika, Krieg Andreas, Andreou Dimosthenis, Tunn Per-Ulf, Dürr Hans Roland, Rechl Hans, Schaser Klaus-Dieter, Melcher Ingo, Burdach Stefan, Kulozik Andreas, Specht Katja, Heinimann Karl, Fulda Simone, Bielack Stefan, Jundt Gernot, Tomlinson Ian, Korbel Jan O, Nathrath Michaela, Baumhoer Daniel

Abstract excerpt

Osteosarcomas are aggressive bone tumours with a high degree of genetic heterogeneity, which has historically complicated driver gene discovery. Here we sequence exomes of 31 tumours and decipher their evolutionary landscape by inferring clonality of the individual mutation events. Exome findings are interpreted in the context of mutation and SNP array data from a replication set of 92 tumours. We identify 14...

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PMID: 26632267
DOI: 10.1038/ncomms9940
PMCID: PMC4686819

Genes

BRCA1

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