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      Comprehensive Genomic Sequencing of Urothelial Tumors Identifies Rare SMARCB1 (INI-1)-Deficient Carcinomas of the Urinary System.

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          Abstract

          Tumor genomic profiling helps direct therapy for advanced urothelial carcinoma (UC). In the course of clinical care, we encountered a patient with a complete loss of SMARCB1 (switch/sucrose nonfermentable-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1), which encodes INI-1 (integrase interactor 1), as the sole detected driver of their urinary tract tumor. Our objective was the identification and genomic characterization of urinary tract neoplasia with complete SMARCB1 loss.

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          Author and article information

          Journal
          Clin Genitourin Cancer
          Clinical genitourinary cancer
          Elsevier BV
          1938-0682
          1558-7673
          April 2018
          : 16
          : 2
          Affiliations
          [1 ] Huntsman Cancer Institute, University of Utah, Salt Lake City, UT. Electronic address: sumati.gupta@hci.utah.edu.
          [2 ] Department of Pathology and Associated Regional and University Pathologists Laboratories, University of Utah, Salt Lake City, UT.
          [3 ] School of Medicine, University of Utah, Salt Lake City, UT.
          [4 ] Department of Radiology, University of Utah, Salt Lake City, UT.
          [5 ] Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
          [6 ] Vanderbilt University, Nashville, TN.
          [7 ] Foundation Medicine Inc, Cambridge, MA.
          [8 ] Foundation Medicine Inc, Cambridge, MA; Albany Medical College, Albany, NY.
          Article
          S1558-7673(17)30276-8
          10.1016/j.clgc.2017.09.001
          28974397
          374371c8-52b8-43f1-80f5-7b9b3ad4c927
          History

          Genomic profiling,MVAC,Urologic neoplasms,EZH2,SMARCB1 protein

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