Study

Location specific ACVR1, FGFR1 and TP53 mutations in pediatric glioblastomas in conjunction with H3.3 K27M.

Study ID Alternative Stable ID Type
EGAS00001000720 Other

Study Description

Recurrent somatic H3 K27M mutations characterize midline pediatric high-grade astrocytomas (pHGAs). In 40 treatment-naïve midline pHGAs we find additional somatic mutations specific to tumor location. Gain-of-function mutations in ACVR1 occur in tumors of the pons in conjunction with H3.1K27M, while FGFR1 mutations/fusions occur in thalamic tumors in conjunction with H3.3 K27M. Genetic profiles of pHGA show actionable targets, suggesting that pre-treatment biopsy could effectively orient therapeutic efforts.

Study Datasets 2 datasets.

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Dataset ID Description Technology Samples
EGAD00001000791
Exome sequencing of familial and sporadic small cell cancer of ovary cases.
Illumina HiSeq 2000,Illumina HiSeq 2500 16
EGAD00001000792
Whole exome sequencing of paediatric glioblastoma with mutations reported in the manuscript: Mutations in ACVR1, FGFR1 and TP53 associate with tumor location in histone H3 K27M pediatric midline high-grade astrocytoma
Illumina HiSeq 2000,Illumina HiSeq 2500 38

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