ID
45573
Descrição
Principal Investigator: Rameen Beroukhim, MD, PhD, Dana-Farber Cancer Institute, Boston, MA 02215, USA MeSH: Meningioma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000552 Meningiomas are the most common primary brain tumor in the US. Although the tumor suppressor gene NF2 is disrupted in approximately half of meningiomas, the complete spectrum of genetic changes in meningiomas remains poorly understood, particularly in the large subset of tumors without NF2 alterations. Therefore we performed whole-genome sequencing from 11 Grade I meningioma tumor-normal pairs and whole-exome sequencing from an additional 6 tumor-normal pairs to identify somatic mutations, insertions-deletions, copy-number alterations and rearrangements. We validated our results by performing focused sequencing across 48 additional meningiomas.
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Versões (1)
- 24/01/2023 24/01/2023 - Dr. Christian Niklas
Titular dos direitos
Rameen Beroukhim, MD, PhD, Dana-Farber Cancer Institute, Boston, MA 02215, USA
Transferido a
24 de janeiro de 2023
DOI
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Licença
Creative Commons BY 4.0
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dbGaP phs000552 Genomic Characterization of Meningiomas
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
- Sample ID, subject ID, and sample use variables obtained from participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
- Subject ID, age, and sex of participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
- Sample ID, body site where sample was collected, analyte type of samples, tumor status, histological type of samples, and whether the sample was obtained from recurrent tumor associated with participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
- Sample ID, subject ID, and sample use variables obtained from participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
- Subject ID, age, and sex of participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
- Sample ID, body site where sample was collected, analyte type of samples, tumor status, histological type of samples, and whether the sample was obtained from recurrent tumor associated with participants with meningioma and involved in the "Genomic Characterization of Meningiomas" project.
C0680251 (UMLS CUI [1,2])
C0428093 (UMLS CUI [1,2])