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Whole Exome Sequencing of Six Signet Ring/Plasmacytoid Variant Bladder Tumors

UID: 10399

Author(s): Solit, David* * MSK affiliated

Description
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. The data includes information about the study, subject phenotype datasets (de-identified subject IDs, disease onset age, and subject gender), and molecular datasets (SRA run information).
Subject of Study
Subject(s)
OncoTree Cancer Type(s)
Plasmacytoid/Signet Ring Cell Bladder Carcinoma
Access via dbGaP


Accession #: phs001064.v1.p1

Access Restrictions
Application Required
Access Instructions
Full access to this dataset in dbGaP requires authorization through an Authorized Access Portal which can be requested for either 'data download' or 'view only'. Upon approval data can be downloaded in SNV Aggregate (.MAF: mutation annotation Format), and WXS formats. A full list of and information about the SRA runs, BioSamples, and experiments is publicly viewable by going to the 'Molecular Datasets' tab and clicking on 'RunSelector' at the bottom of the page. This will take you to the NCBI SRA Run Selector platform, however view and download of the datasets themselves still requires authorization through dbGaP.
Associated Publications
Data Type
Equipment Used
Illumina HiSeq 2500
Dataset Format(s)
MAF, WXS
Dataset Size
40.26 GB
Other Resources
Genomic Characterization of Plasmacytoid/Signet-ring Carcinoma (PC/SRC) of the Bladder BioProject

The dbGaP phs001064.v1.p1 accession is part of the NCBI BioProject PRJNA310265

Data Catalog Record Updated
2021-03-24