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Title: Genomic Characterization of Pediatric Low-Grade Gliomas      
Identifier:
phs001054.v1.p1
description:
Pediatric low-grade gliomas (PLGGs) are the most common pediatric brain-tumor, with more than ten histologic subtypes recognized by the World Health Organization. We performed a genomic analysis of 230 PLGGs of which 73 had whole genome/RNA sequencing performed and show that MYB-QKI fusions define the seizure associated tumor, Angiocentric Glioma (AG). MYB-QKI fusions present in AGs contribute to tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression, and hemizygous loss of QKI, a tumor suppressor gene. Such interplay between three oncogenic mechanisms has diagnostic and therapeutic implications in AGs, and illustrates the functional complexity associated with rearrangements in cancer.
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landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001054.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Glioma
Astrocytoma
affiliations:
The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, PA, USA
name:
Adam Resnick, PhD
roles:
Co-Principal Investigators
affiliations:
Dana-Farber Cancer Institute, PA, Brigham and Women's Hospital, MA, Broad Institute of MIT and Harvard, MA, USA
name:
Rameen Beroukhim, MD, PhD
roles:
Co-Principal Investigators
affiliations:
Dana-Farber Cancer Institute, PA, Boston Children's Hospital, MA, Brigham and Women's Hospital, MA, USA
name:
Keith L. Ligon, MD, PhD
roles:
Co-Principal Investigators
affiliations:
Dana-Farber Cancer Institute, PA, Boston Children's Hospital, MA, Broad Institute of MIT and Harvard, MA, USA
name:
Pratiti Bandopadhayay, MBBS, PhD
roles:
Co-Principal Investigators
affiliations:
Dana-Farber Cancer Institute, PA, USA
name:
Lori Ramkissoon, PhD
roles:
Co-Principal Investigators
affiliations:
The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, PA, USA
name:
Payal Jain
roles:
Co-Principal Investigators
affiliations:
Dana-Farber Cancer Institute, PA, USA
name:
Guillaume Bergthold, MD
roles:
Co-Principal Investigators
affiliations:
Brigham and Women's Hospital, MA, USA
name:
Azra Ligon, PhD
roles:
Co-Principal Investigators
affiliations:
Boston Children's Hospital, MA, Dana-Farber Cancer Institute, PA, USA
name:
Mark Kieran, MD
roles:
Co-Principal Investigators
affiliations:
Dana-Farber Cancer Institute, PA, USA
name:
Matthew D. Ducar
roles:
Other Investigators
affiliations:
Dana-Farber Cancer Institute, PA, USA
name:
Paul van Hummelen
roles:
Other Investigators
performedBy:
TitleNameInstitute Co-Principal InvestigatorsAdam Resnick, PhDThe Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, PA, USA Co-Principal InvestigatorsRameen Beroukhim, MD, PhDDana-Farber Cancer Institute, PA, Brigham and Women's Hospital, MA, Broad Institute of MIT and Harvard, MA, USA Co-Principal InvestigatorsKeith L. Ligon, MD, PhDDana-Farber Cancer Institute, PA, Boston Children's Hospital, MA, Brigham and Women's Hospital, MA, USA Co-Principal InvestigatorsPratiti Bandopadhayay, MBBS, PhDDana-Farber Cancer Institute, PA, Boston Children's Hospital, MA, Broad Institute of MIT and Harvard, MA, USA Co-Principal InvestigatorsLori Ramkissoon, PhDDana-Farber Cancer Institute, PA, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs001054.v1.p1
Identifier:
phs001054.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
General Research Use
Identifier:
2
name:
Disease-Specific (Nervous Tissue Tumors)
alternateIdentifiers:
yes
selectionCriteria:

Excluded patients > 21 years of age

types:
Case Set
dateReleased:
12-28-2015
version:
phs001054.v1.p1
dateModified:
01-04-2016
abbreviation:
NCI
name:
NCI
ID:
0
name:
dbGaP

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