ID
45803
Beschreibung
Principal Investigator: David Solit, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA MeSH: Carcinoma, Signet Ring Cell,Urinary Bladder Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001064 In this study, six plasmacytoid bladder cancers were analyzed by whole exome sequencing. The results show loss of the CDH1 gene in every sample and correlate with E-cadherin loss of expression by immunohistochemistry. A separate validation cohort of plasmacytoid samples showed loss of E-cadherin expression by CDH1 mutation or promoter hypermethylation.
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- 23.06.23 23.06.23 - Chiara Middel
Rechteinhaber
David Solit, MD, Memorial Sloan Kettering Cancer Center, New York, NY, USA
Hochgeladen am
23. Juni 2023
DOI
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Lizenz
Creative Commons BY 4.0
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dbGaP phs001064 Whole Exome Sequencing of Signet Ring/Plasmacytoid Variant Bladder Cancer
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject IDs, age onset, and sex.
- This sample attributes table contains sample IDs, body site, analyte type, tumor status, histological type, primary tumor, metastasis, or transformed cell line, and primary tumor location.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs and consent information.
- This data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype table contains subject IDs, age onset, and sex.
- This sample attributes table contains sample IDs, body site, analyte type, tumor status, histological type, primary tumor, metastasis, or transformed cell line, and primary tumor location.
C0680251 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,2])
C0205462 (UMLS CUI [1,3])
C0205419 (UMLS CUI [1,4])