The spectrum of SWI/SNF mutations, ubiquitous in human cancers.
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...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3552954?pdf=render |
| _version_ | 1798044617380200448 |
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| author | A Hunter Shain Jonathan R Pollack |
| author_facet | A Hunter Shain Jonathan R Pollack |
| author_sort | A Hunter Shain |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T23:07:04Z |
| format | Article |
| id | doaj.art-1439e7d8ce584e3fb5f23eae51afdb0c |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-11T23:07:04Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-1439e7d8ce584e3fb5f23eae51afdb0c2022-12-22T03:57:59ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-0181e5511910.1371/journal.pone.0055119The spectrum of SWI/SNF mutations, ubiquitous in human cancers.A Hunter ShainJonathan R PollackSWI/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.http://europepmc.org/articles/PMC3552954?pdf=render |
| spellingShingle | A Hunter Shain Jonathan R Pollack The spectrum of SWI/SNF mutations, ubiquitous in human cancers. PLoS ONE |
| title | The spectrum of SWI/SNF mutations, ubiquitous in human cancers. |
| title_full | The spectrum of SWI/SNF mutations, ubiquitous in human cancers. |
| title_fullStr | The spectrum of SWI/SNF mutations, ubiquitous in human cancers. |
| title_full_unstemmed | The spectrum of SWI/SNF mutations, ubiquitous in human cancers. |
| title_short | The spectrum of SWI/SNF mutations, ubiquitous in human cancers. |
| title_sort | spectrum of swi snf mutations ubiquitous in human cancers |
| url | http://europepmc.org/articles/PMC3552954?pdf=render |
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