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10.1136/jclinpath-2016-203650

http://scihub22266oqcxt.onion/10.1136/jclinpath-2016-203650
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suck abstract from ncbi


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pmid26941181
      J+Clin+Pathol 2016 ; 69 (6 ): 484-9
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  • Gene of the month: SMARCB1 #MMPMID26941181
  • Kalimuthu SN ; Chetty R
  • J Clin Pathol 2016[Jun]; 69 (6 ): 484-9 PMID26941181 show ga
  • SMARCB1 is the core subunit of the SWI/sucrose non-fermenting ATP-dependent chromatin remodelling complex located on the long arm of chromosome 22 (22q11.2). Since discovering genetic alterations of the SMARCB1 gene in malignant rhabdoid tumours, the family of tumours harbouring loss of SMARCB1 expression has been steadily expanding. In this review, we give a general overview of SMARCB1, its role in various cancers including germline mutations, association with genetic syndromes and role in future targeted therapies.
  • |Carcinoma/*genetics [MESH]
  • |Chromatin Assembly and Disassembly [MESH]
  • |Chromosomes, Human, Pair 22/genetics [MESH]
  • |Gene Expression Regulation, Neoplastic [MESH]
  • |Genetic Diseases, Inborn/*genetics [MESH]
  • |Germ-Line Mutation [MESH]
  • |Humans [MESH]
  • |Kidney Neoplasms/*genetics [MESH]
  • |Molecular Targeted Therapy [MESH]
  • |Multiprotein Complexes [MESH]
  • |Rhabdoid Tumor/*genetics [MESH]
  • |SMARCB1 Protein/*genetics/metabolism [MESH]
  • |Sarcoma/*genetics [MESH]


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