Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency
M Kovac, C Blattmann, S Ribi, J Smida… - Nature …, 2015 - nature.com
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 genes as the main drivers, of which
some were formerly unknown in the context of osteosarcoma. None of the drivers is clearly …
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 genes as the main drivers, of which
some were formerly unknown in the context of osteosarcoma. None of the drivers is clearly …