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资源简介：
germline variants in medulloblastoma patients
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创建时间：
2017-02-13
相关数据集
Our study showed that chromosome 1 gene mutations occur frequently in 1p-intact neuroblastoma, but these do not consistently abrogate the function of bonafide tumor suppressors residing on 1p.. Mutational Analysis of 1p Tumor Suppressors in 1p-intact Neuroblastoma
Deletion of 1p is associated with poor prognosis in neuroblastoma, however selected 1p-intact patients still experience poor outcomes. Since mutations of 1p genes may produce deleterious functional ef
NIAID Data Ecosystem80
Recapitulation of genetic predisposition to medulloblastoma in human neuroepithelial stem cells
Human neural stem cell cultures provide progenitor cells that are potential cells of origin for brain cancers. However, the extent to which genetic predisposition to tumor formation can be faithfully
NIAID Data Ecosystem30
Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma
Deletion of 1p is associated with poor prognosis in neuroblastoma, however selected 1p-intact patients still experience poor outcomes. Since mutations of 1p genes may mimic the deleterious effects of
NIAID Data Ecosystem30
Medullo-CEF - samples
218 control exomes, CEF cohort, sequenced on Illumina machines from the paper "Germline Elongator mutations in Sonic Hedgehog medulloblastoma" (Waszak et al. 2020 Nature).EGA dataset EGAD00001006659
NIAID Data Ecosystem60
Deletion of 11q in neuroblastomas drives sensitivity to PARP inhibition [SEQ]. Homo sapiens
SNP arrays were combined with next generation sequencing (NGS) to precisely define the deleted region in 17 primary 11q-loss neuroblastomas and identify allelic variants in genes relevant for neurobla
NIAID Data Ecosystem30
