Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients

SMARCA4 is the core catalytic subunit of the mammalian SWI/SNF complex and is known to be mutated in many cancers. Here, the authors detect more than 10,000 SMARCA4 variants across different cancer subtypes and find hotspot mutations throughout the helicase domain, which reduce remodeling activity.

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Autores principales:	Tharu M. Fernando, Robert Piskol, Russell Bainer, Ethan S. Sokol, Sally E. Trabucco, Qing Zhang, Huong Trinh, Sophia Maund, Marc Kschonsak, Subhra Chaudhuri, Zora Modrusan, Thomas Januario, Robert L. Yauch
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/660128134d924fbaad6dcc27af8cef1f
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spelling	oai:doaj.org-article:660128134d924fbaad6dcc27af8cef1f2021-12-02T14:41:02ZFunctional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients10.1038/s41467-020-19402-82041-1723https://doaj.org/article/660128134d924fbaad6dcc27af8cef1f2020-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-19402-8https://doaj.org/toc/2041-1723SMARCA4 is the core catalytic subunit of the mammalian SWI/SNF complex and is known to be mutated in many cancers. Here, the authors detect more than 10,000 SMARCA4 variants across different cancer subtypes and find hotspot mutations throughout the helicase domain, which reduce remodeling activity.Tharu M. FernandoRobert PiskolRussell BainerEthan S. SokolSally E. TrabuccoQing ZhangHuong TrinhSophia MaundMarc KschonsakSubhra ChaudhuriZora ModrusanThomas JanuarioRobert L. YauchNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Tharu M. Fernando Robert Piskol Russell Bainer Ethan S. Sokol Sally E. Trabucco Qing Zhang Huong Trinh Sophia Maund Marc Kschonsak Subhra Chaudhuri Zora Modrusan Thomas Januario Robert L. Yauch Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients
description	SMARCA4 is the core catalytic subunit of the mammalian SWI/SNF complex and is known to be mutated in many cancers. Here, the authors detect more than 10,000 SMARCA4 variants across different cancer subtypes and find hotspot mutations throughout the helicase domain, which reduce remodeling activity.
format	article
author	Tharu M. Fernando Robert Piskol Russell Bainer Ethan S. Sokol Sally E. Trabucco Qing Zhang Huong Trinh Sophia Maund Marc Kschonsak Subhra Chaudhuri Zora Modrusan Thomas Januario Robert L. Yauch
author_facet	Tharu M. Fernando Robert Piskol Russell Bainer Ethan S. Sokol Sally E. Trabucco Qing Zhang Huong Trinh Sophia Maund Marc Kschonsak Subhra Chaudhuri Zora Modrusan Thomas Januario Robert L. Yauch
author_sort	Tharu M. Fernando
title	Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients
title_short	Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients
title_full	Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients
title_fullStr	Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients
title_full_unstemmed	Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients
title_sort	functional characterization of smarca4 variants identified by targeted exome-sequencing of 131,668 cancer patients
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/660128134d924fbaad6dcc27af8cef1f
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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients

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