Gene of the month: SMARCB1

被引：54

作者：

Kalimuthu, Sangeetha N. ^{[1
]}

Chetty, Runjan ^{[1
]}

机构：

[1] Univ Toronto, Univ Hlth Network, Lab Med Program, Dept Pathol, Toronto, ON, Canada

来源：

JOURNAL OF CLINICAL PATHOLOGY | 2016年 / 69卷 / 06期

关键词：

SWI/SNF COMPLEX; TUMOR-SUPPRESSOR; BAF COMPLEXES; CHROMATIN; EXPRESSION; MUTATIONS; TRANSCRIPTION; INACTIVATION; MECHANISMS; HSNF5/INI1;

D O I：

10.1136/jclinpath-2016-203650

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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. LP=1

引用

页码：484 / 489

页数：6

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