ID
45788
Descripción
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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Versiones (1)
- 22/6/23 22/6/23 - Chiara Middel
Titular de derechos de autor
Bishoy Faltas, MD, Weill-Cornell Medicine, New York, NY, USA
Subido en
22 de junio de 2023
DOI
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Licencia
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.
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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.
C0680251 (UMLS CUI [1,2])
C2145472 (UMLS CUI [2,1])
C0205179 (UMLS CUI [2,2])
C0729865 (UMLS CUI [3,1])
C2145472 (UMLS CUI [3,2])
C1282907 (UMLS CUI [1,2])
C0027651 (UMLS CUI [1,3])