The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers

被引：442

作者：

Shain, A. Hunter ^{[1
]}

Pollack, Jonathan R. ^{[1
]}

机构：

[1] Stanford Univ, Dept Pathol, Sch Med, Stanford, CA 94305 USA

来源：

PLOS ONE | 2013年 / 8卷 / 01期

关键词：

IDENTIFIES FREQUENT MUTATION; REMODELING GENE ARID1A; SOMATIC MUTATIONS; TUMOR-SUPPRESSOR; INACTIVATING MUTATIONS; COMPLEX; EXPRESSION; BREAST; COMPONENTS; LANDSCAPE;

D O I：

10.1371/journal.pone.0055119

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

SWI/SNF is a multi-subunit chromatin remodeling complex that uses the energy of ATP hydrolysis to reposition nucleosomes, thereby modulating gene expression. Accumulating evidence suggests that SWI/SNF functions as a tumor suppressor in some cancers. However, the spectrum of SWI/SNF mutations across human cancers has not been systematically investigated. Here, we mined whole-exome sequencing data from 24 published studies representing 669 cases from 18 neoplastic diagnoses. SWI/SNF mutations were widespread across diverse human cancers, with an excess of deleterious mutations, and an overall frequency approaching TP53 mutation. Mutations occurred most commonly in the SMARCA4 enzymatic subunit, and in subunits thought to confer functional specificity ( ARID1A, ARID1B, PBRM1, and ARID2). SWI/SNF mutations were not mutually-exclusive of other mutated cancer genes, including TP53 and EZH2 ( both previously linked to SWI/SNF). Our findings implicate SWI/SNF as an important but under-recognized tumor suppressor in diverse human cancers, and provide a key resource to guide future investigations.

引用

页数：11

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