ID
45527
Descrizione
Principal Investigator: Robert West, MD, PhD, Stanford School of Medicine, Department of Pathology, Stanford, CA USA MeSH: Ameloblastoma,SMO protein, human,BRAF protein, human https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000739 RNA-seq data from two cases of ameloblastoma was analyzed for candidate gene fusions and point mutations. Recurrent point mutations identified in the RNA-seq data, as well as mutations identified with limited panel targeted deep sequencing, were validated as somatic. Expanding to a larger cohort of 28, one of two activating mutations was found in 80% of cases. No recurrent gene fusions events were identified.
collegamento
Keywords
versioni (1)
- 26/12/22 26/12/22 - Chiara Middel
Titolare del copyright
Robert West, MD, PhD, Stanford School of Medicine, Department of Pathology, Stanford, CA USA
Caricato su
26 dicembre 2022
DOI
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Licenza
Creative Commons BY 4.0
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dbGaP phs000739 Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
- Subject ID, gender, age, and race of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type of sample, primary tumor or metastasis, primary tumor location, and name of center which conducted sequencing of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, and affection status of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
- Subject ID, sample ID, sample source, source sample ID, and sample use variable of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
- Subject ID, gender, age, and race of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
- Sample ID, body site where sample was obtained, analyte type, tumor status of sample, histological type of sample, primary tumor or metastasis, primary tumor location, and name of center which conducted sequencing of participants with ameloblastoma and involved in the "Identification of Recurrent SMO and BRAF Mutations in Ameloblastomas" project.
C0680251 (UMLS CUI [1,2])
C0002448 (UMLS CUI [1,2])
C0030664 (UMLS CUI [1,3])
C0025102 (UMLS CUI [1,4])
C0003738 (UMLS CUI [1,5])
C0750484 (UMLS CUI [2,1])
C0011900 (UMLS CUI [2,2])
C0680251 (UMLS CUI [3,1])
C0520510 (UMLS CUI [3,2])
C0700185 (UMLS CUI [3,3])