title: Gene of the month: SMARCB1.
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.
authors.affiliation: Department of Pathology, Laboratory Medicine Program, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Sangeetha N
authors.initials: SN
authors.lastname: Kalimuthu
authors.affiliation: Department of Pathology, Laboratory Medicine Program, University Health Network, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Runjan
authors.initials: R
authors.lastname: Chetty
mesh_terms: D002277:Carcinoma / Q000235:genetics*; D042002:Chromatin Assembly and Disassembly; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D058990:Molecular Targeted Therapy; D046912:Multiprotein Complexes; D018335:Rhabdoid Tumor / Q000235:genetics*; D000071796:SMARCB1 Protein / Q000235:genetics* / Q000378:metabolism; D012509:Sarcoma / Q000235:genetics*; D015398:Signal Transduction
chemical_list: D046912:Multiprotein Complexes; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human
keywords: CARCINOMA; GENETICS; MALIGNANT TUMOURS