ID
45368
Description
Principal Investigator: David Gutmann, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA MeSH: Pilocytic Astrocytoma,Glioma,Neurofibromatosis Type 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000563 Neurofibromatosis type 1 (NF1) inherited cancer predisposition syndrome is one of the most common autosomal dominant tumor predisposition syndromes in which affected individuals develop brain tumors. These low-grade glial neoplasms (pilocytic astrocytomas) typically arise in children younger than 7 years of age and are hypothesized to result from a combination of germline and acquired somatic NF1 tumor suppressor gene mutations. In this study, whole genome sequence analysis was performed on three NF1-associated pilocytic astrocytoma tumors (NF1-PA) and matched normal blood samples to establish the genomic landscape of NF1-PA. These data support the existence of multiple distinct mechanisms (mutation, LOH, and methylation) underlying somatic NF1 inactivation in NF1-PA tumors.
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- 11/4/22 11/4/22 - Chiara Middel
Copyright Holder
David Gutmann, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA
Uploaded on
November 4, 2022
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License
Creative Commons BY 4.0
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dbGaP phs000563 Pilocytic Astrocytoma in NF1
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs, consent group information, and affection status.
- The data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- The subject phenotype data table includes data collected for age, sex, and tumor location.
- The sample attributes table includes body site where the sample was extracted, analyte type, and tumor status.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- This data table contains subject IDs, consent group information, and affection status.
- The data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- The subject phenotype data table includes data collected for age, sex, and tumor location.
- The sample attributes table includes body site where the sample was extracted, analyte type, and tumor status.
C0011900 (UMLS CUI [1,2])
C0443211 (UMLS CUI [1,3])
C0243161 (UMLS CUI [1,4])
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