Gene of the month: SMARCB1. Issue 6 (3rd March 2016)

• Record Type: Journal Article
• Authors: Kalimuthu, Sangeetha N; Chetty, Runjan
• Is Part Of: Journal of clinical pathology. Volume 69:Issue 6(2016)
• Page Start: 484
• Page End: 489
• Publication Date: 2016-03-03
• Subjects: MALIGNANT TUMOURS -- CARCINOMA -- GENETICS; Pathology -- Periodicals; Pathology, Molecular -- Periodicals; 616.0705
• DOI: 10.1136/jclinpath-2016-203650
• Languages: English
• ISSNs: 0021-9746

Abstract

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.