ID
45497
Description
Principal Investigator: David Solit, MD, Memorial Sloan-Kettering Cancer Center, New York, NY, USA MeSH: Urinary Bladder Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000535 One primary bladder cancer and paired peripheral blood sample were subjected to whole genome sequencing on an Illumina HiSeq 2000 platform. This technology was utilized to investigate the genetic basis of a durable remission of metastatic bladder cancer in a patient treated with everolimus, a drug that inhibits the mTOR (mammalian target of rapamycin) signaling pathway. Among the somatic mutations found was a loss-of-function mutation in TSC1 (Tuberous Sclerosis Complex 1), a regulator of mTOR pathway activation. Targeted sequencing using an exon capture and sequencing assay was performed on 13 tumors derived from patients on the same everolimus trial as the index patient and the sequencing data from these tumors is included. TSC1 mutation status was correlated with response to everolimus. The index patient responder tumor and peripheral blood DNA were also subjected to exon capture and sequencing.
Lien
Mots-clés
Versions (2)
- 07/11/2022 07/11/2022 - Simon Heim
- 13/12/2022 13/12/2022 - Kristina Keller
Détendeur de droits
David Solit, MD, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
Téléchargé le
13 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 phs000535 Genome and Targeted Sequencing of Bladder Cancer
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, subject source ID, and consent group of participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
- Sample ID, subject ID, and sample use variables obtained from participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
- Subject ID, somatic mutation in TSC1, and response to therapy of participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
- Sample ID, body site where sample was collected, analyte type, tumor status, histological type of sample, transformed cell line, metastasis or primary tumor obtained from participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, subject source, subject source ID, and consent group of participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
- Sample ID, subject ID, and sample use variables obtained from participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
- Subject ID, somatic mutation in TSC1, and response to therapy of participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
- Sample ID, body site where sample was collected, analyte type, tumor status, histological type of sample, transformed cell line, metastasis or primary tumor obtained from participants with or without bladder cancers and involved in the "Whole Genome and Exon Capture Sequencing of Bladder Cancers" project.
C0680251 (UMLS CUI [1,2])
C0282460 (UMLS CUI [1,2])
C0541315 (UMLS CUI [1,3])
C1513120 (UMLS CUI [1,4])
C0475358 (UMLS CUI [2,1])
C3640076 (UMLS CUI [2,2])
C0040300 (UMLS CUI [2,3])
C3839098 (UMLS CUI [3,1])
C0475358 (UMLS CUI [3,2])
C0229664 (UMLS CUI [3,3])
C0205307 (UMLS CUI [3,4])
C0227598 (UMLS CUI [3,5])