ID
45527
Description
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.
Lien
Mots-clés
Versions (1)
- 26/12/2022 26/12/2022 - Chiara Middel
Détendeur de droits
Robert West, MD, PhD, Stanford School of Medicine, Department of Pathology, Stanford, CA USA
Téléchargé le
26 décembre 2022
DOI
Pour une demande vous connecter.
Licence
Creative Commons BY 4.0
Modèle Commentaires :
Ici, vous pouvez faire des commentaires sur le modèle. À partir des bulles de texte, vous pouvez laisser des commentaires spécifiques sur les groupes Item et les Item.
Groupe Item commentaires pour :
Item commentaires pour :
Vous devez être connecté pour pouvoir télécharger des formulaires. Veuillez vous connecter ou s’inscrire gratuitement.
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])