Title |
The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers
|
---|---|
Published in |
PLOS ONE, January 2013
|
DOI | 10.1371/journal.pone.0055119 |
Pubmed ID | |
Authors |
A. Hunter Shain, Jonathan R. Pollack |
Abstract |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 3 | 60% |
Unknown | 2 | 40% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 60% |
Scientists | 2 | 40% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 3 | <1% |
Austria | 1 | <1% |
Denmark | 1 | <1% |
United Kingdom | 1 | <1% |
Spain | 1 | <1% |
China | 1 | <1% |
Unknown | 415 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 100 | 24% |
Researcher | 67 | 16% |
Student > Bachelor | 54 | 13% |
Student > Master | 46 | 11% |
Student > Doctoral Student | 21 | 5% |
Other | 62 | 15% |
Unknown | 73 | 17% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 138 | 33% |
Agricultural and Biological Sciences | 113 | 27% |
Medicine and Dentistry | 61 | 14% |
Chemistry | 8 | 2% |
Immunology and Microbiology | 6 | 1% |
Other | 20 | 5% |
Unknown | 77 | 18% |