ID
44999
Descripción
Principal Investigator: Richard Gilbertson, St. Jude Children's Research Hospital, Memphis, TN, USA MeSH: Medulloblastoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000409 Medulloblastoma is a heterogenous disease made up of at least four distinct subtypes of disease which appear to exploit and disrupt naturally occurring developmental pathways of cellular growth and hindbrain development. To better understand the driver mutations of this disease, we performed whole genome sequencing of 37 medulloblastomas and the corresponding normal DNA of the 37 affected children treated at St. Jude Children's Research Hospital. We have found several novel mutations which appear subtype specific. These mutations were checked for frequency in a separate tumor cohort of 56 children with medulloblastoma, also treated on the St. Jude Medulloblastoma 2003 trial, and were tested in several animal models of medulloblastoma for proof of oncogenic potential.
Link
https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000409
Palabras clave
Versiones (2)
- 1/7/22 1/7/22 - Dr. Christian Niklas
- 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor
Richard Gilbertson, St. Jude Children's Research Hospital, Memphis, TN, USA
Subido en
1 de julio de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000409 Sequencing of Medulloblastoma
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Subject ID, gender, age at diagnosis, ethnicity, sample description, patient relapse, if patient received bone marrow transplant, genetic lesions, primary protocol of treatment, and disease code of participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Sample ID, analyte type, tumor status, body site where sample was collected, primary tumor location, and histological type of samples obtained from participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Sample ID and GEO accession ID of samples obtained from participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Sample ID, subject ID, sample source, sample source ID, and sample use variables obtained from participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Subject ID, gender, age at diagnosis, ethnicity, sample description, patient relapse, if patient received bone marrow transplant, genetic lesions, primary protocol of treatment, and disease code of participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Sample ID, analyte type, tumor status, body site where sample was collected, primary tumor location, and histological type of samples obtained from participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
- Sample ID and GEO accession ID of samples obtained from participants with medulloblastoma and involved in the "The Genomic Analysis of Medulloblastoma" project.
C0025149 (UMLS CUI [1,2])
C0332142 (UMLS CUI [1,3])
C1512693 (UMLS CUI [2,1])
C3640076 (UMLS CUI [2,2])
C0027651 (UMLS CUI [2,3])
C1512693 (UMLS CUI [3,1])
C3640076 (UMLS CUI [3,2])
C0332441 (UMLS CUI [3,3])
C1512693 (UMLS CUI [4,1])
C0021430 (UMLS CUI [4,2])
C2827447 (UMLS CUI [4,3])
C1512693 (UMLS CUI [5,1])
C1547867 (UMLS CUI [5,2])
C1328887 (UMLS CUI [5,3])