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 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.

Dataset ID	Description	Technology	Samples
EGAD00001000791	Exome sequencing of familial and sporadic small cell cancer of ovary cases. 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 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

Dataset ID

Description

Technology

Samples

EGAD00001000791

Exome sequencing of familial and sporadic small cell cancer of ovary cases.

Illumina HiSeq 2000,Illumina HiSeq 2500

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

Study

Study Description

Study Datasets 2 datasets.

Who archives the data?

Publications

Citations

The European Genome-phenome Archive (EGA) is part of the ELIXIR infrastructure.