Establishing a model for functional characterisation of somatically mutated genes in neuroblastoma

To identify driver mutations in high risk neuroblastoma, whole-exome sequencing of 125 primary high risk neuroblastoma tumours was performed. Overall, a low mutation rate was observed in comparison to adult cancers, and only a few genes were recurrently mutated, indicating a substantial genomic heterogeneity of this tumour entity. In some tumours, however, known driver mutations were identified in bona fide cancer genes such as ALK, HRAS, and KRAS. As activation of the RAS signalling pathway is frequently found in other types of cancer, a subset of mutated genes associated with the RAS pathway were selected to e…