Host whole genome variations are associated with neurocognitive outcome in survivors of pediatric medulloblastoma

Study ID Alternative Stable ID Type
EGAS00001002996 Other

Study Description

Host whole genome analysis is a promising source of predictive information for long-term morbidity in cancer survivors. However, studies on genetic predictors of long-term outcome, particularly neurocognitive function following chemoradiation in pediatric oncology are limited. In the present study, we evaluated variations in host whole genome single nucleotide polymorphisms (SNPs) and their association with cognitive outcome. Whole-genome SNP analysis of host peripheral blood was conducted on 22 medulloblastoma long-term survivors, of whom 18 completed neuropsychological testing. First, unsupervised consensus clustering of the most variable SNPs within 409 genes involved in DNA repair was performed. Discrete variant groups were identified, although they were not associated with cognitive outcome, suggesting that variations in genes corresponding to a single functional group may be insufficient to predict long-term outcome alone. In support of this interpretation, unsupervised hierarchical clustering analysis using disease-associated gene variants by cognitive impairment status ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Whole genome sequencing reads consisting of paired end Fastq and aligned bam files from pediatric medulloblastoma samples.
HiSeq X Ten 22

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