Gene of the month: SMARCB1

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 expr...

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Detalles Bibliográficos
Autores principales: Kalimuthu, Sangeetha N, Chetty, Runjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Gene of the Month
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914571/
https://www.ncbi.nlm.nih.gov/pubmed/26941181
http://dx.doi.org/10.1136/jclinpath-2016-203650
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author Kalimuthu, Sangeetha N
Chetty, Runjan
author_facet Kalimuthu, Sangeetha N
Chetty, Runjan
author_sort Kalimuthu, Sangeetha N
collection PubMed
description 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.
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spelling pubmed-49145712016-06-22 Gene of the month: SMARCB1 Kalimuthu, Sangeetha N Chetty, Runjan J Clin Pathol Gene of the Month 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. BMJ Publishing Group 2016-06 2016-03-03 /pmc/articles/PMC4914571/ /pubmed/26941181 http://dx.doi.org/10.1136/jclinpath-2016-203650 Text en Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
spellingShingle Gene of the Month
Kalimuthu, Sangeetha N
Chetty, Runjan
Gene of the month: SMARCB1
title Gene of the month: SMARCB1
title_full Gene of the month: SMARCB1
title_fullStr Gene of the month: SMARCB1
title_full_unstemmed Gene of the month: SMARCB1
title_short Gene of the month: SMARCB1
title_sort gene of the month: smarcb1
topic Gene of the Month
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914571/
https://www.ncbi.nlm.nih.gov/pubmed/26941181
http://dx.doi.org/10.1136/jclinpath-2016-203650
work_keys_str_mv AT kalimuthusangeethan geneofthemonthsmarcb1
AT chettyrunjan geneofthemonthsmarcb1

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