ID
45788
Description
Principal Investigator: Bishoy Faltas, MD, Weill-Cornell Medicine, New York, NY, USA MeSH: Carcinoma, Transitional Cell,Urinary Bladder Neoplasms,Neoplasm Metastasis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001087 Using whole-exome sequencing of urothelial carcinoma samples including matched sets of primary and locally recurrent or metastatic UC tumors collected over time and space and whole-exome sequencing of germline DNA samples, we provide the first detailed analysis of deleterious germline variants of urothelial carcinoma. We performed a systematic and integrated analyses to examine germline-somatic variant interactions that revealed insights into their biological role in urothelial cancer.
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Versions (1)
- 6/22/23 6/22/23 - Chiara Middel
Copyright Holder
Bishoy Faltas, MD, Weill-Cornell Medicine, New York, NY, USA
Uploaded on
June 22, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001087 Clonal Evolution of Platinum-Resistant Metastatic Urothelial Cancer
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and case control status of the subject for urothelial carcinoma.
- 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.
- This subject phenotype table contains subject IDs, gender, age, smoking status, histopathology of the primary tumor, highest clinical TNM stage of the patient recorded, and PT state diagnosis.
- This sample attributes table contains sample IDs, body site where sample was collected, analyte type, tumor status, primary or metastatic tumor, chemotherapy, chemotherapy status, and tumor grade.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, and case control status of the subject for urothelial carcinoma.
- 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.
- This subject phenotype table contains subject IDs, gender, age, smoking status, histopathology of the primary tumor, highest clinical TNM stage of the patient recorded, and PT state diagnosis.
- This sample attributes table contains sample IDs, body site where sample was collected, analyte type, tumor status, primary or metastatic tumor, chemotherapy, chemotherapy status, and tumor grade.
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C0205179 (UMLS CUI [2,2])
C0729865 (UMLS CUI [3,1])
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C1282907 (UMLS CUI [1,2])
C0027651 (UMLS CUI [1,3])