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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Versions (1)
- 04/11/2022 04/11/2022 - Chiara Middel
Détendeur de droits
David Gutmann, MD, PhD, Washington University School of Medicine, St. Louis, MO, USA
Téléchargé le
4 novembre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000563 Pilocytic Astrocytoma in NF1
The subject phenotype data table includes data collected for age, sex, and tumor location.
- 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
The subject phenotype data table includes data collected for age, sex, and tumor location.
- 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.
C2348585 (UMLS CUI [1,2])
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C0017638 (UMLS CUI [1,4])