ID
45497
Beschreibung
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.
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Stichworte
Versionen (2)
- 07.11.22 07.11.22 - Simon Heim
- 13.12.22 13.12.22 - Kristina Keller
Rechteinhaber
David Solit, MD, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
Hochgeladen am
13. Dezember 2022
DOI
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Lizenz
Creative Commons BY 4.0
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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.
Ähnliche Modelle
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])