RT Journal Article
SR Electronic
T1 Gene of the month: <em>SMARCB1</em>
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 484
OP 489
DO 10.1136/jclinpath-2016-203650
VO 69
IS 6
A1 Sangeetha N Kalimuthu
A1 Runjan Chetty
YR 2016
UL http://jcp.bmj.com/content/69/6/484.abstract
AB 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.