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Gene of the month: SMARCB1
  1. Sangeetha N Kalimuthu,
  2. Runjan Chetty
  1. Department of Pathology, Laboratory Medicine Program, University Health Network, University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to Dr Sangeetha N Kalimuthu, Department of Pathology, University Health Network, Toronto General Hospital, 200 Elizabeth Street, 11th Floor, Eaton Wing, Toronto, Ontario, Canada M5G 2C4; kalimuthu.sangeetha{at}gmail.com

Abstract

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.

  • MALIGNANT TUMOURS
  • CARCINOMA
  • GENETICS

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