![]() ![]() Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy.īrain tumours are the most common cause of childhood oncological death, and medulloblastoma is the most common malignant paediatric brain tumour. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. ![]() The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson’s disease, which is exquisitely restricted to Group 4α. ![]() SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. Nature volume 488, pages 49–56 ( 2012) Cite this article Subgroup-specific structural variation across 1,000 medulloblastoma genomes ![]()
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