Hotspot Mutation of Brahma in Non-Melanoma Skin Cancer

Mammalian SWItch/sucrose non fermentable (SWI/SNF) remodeling of chromatin modulates transcription and DNA repair. The Brahma (BRM) catalytic subunit of the SWI/SNF complex is one of two mutually exclusive subunits that provide energy for remodeling. BRM has been identified as an important cancer su...

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Veröffentlicht in:Journal of investigative dermatology 2009-04, Vol.129 (4), p.1012-1015
Hauptverfasser: Moloney, Fergal J., Lyons, J Guy, Bock, Vanessa L., Huang, Xiao X., Bugeja, Matthew J., Halliday, Gary M.
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container_issue 4
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container_title Journal of investigative dermatology
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creator Moloney, Fergal J.
Lyons, J Guy
Bock, Vanessa L.
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Bugeja, Matthew J.
Halliday, Gary M.
description Mammalian SWItch/sucrose non fermentable (SWI/SNF) remodeling of chromatin modulates transcription and DNA repair. The Brahma (BRM) catalytic subunit of the SWI/SNF complex is one of two mutually exclusive subunits that provide energy for remodeling. BRM has been identified as an important cancer susceptibility locus; however, to date no mutations have been identified in the BRM gene. We performed genetic analysis of BRM in human non-melanoma skin cancers, precancerous lesions, and normal skin revealing a common nonsynonymous point mutation present in one of ten squamous cell and two of six basal cell carcinoma of the skin. This hotspot was not present in germ-line DNA from the same patients, nor in epithelial precancerous lesions. The observed G:C to T:A transversion is typical of mutations occurring following oxidative damage, such as that caused by UVA radiation. This previously unreported hotspot mutation occurs in a highly conserved region of the BRM gene.
doi_str_mv 10.1038/jid.2008.319
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subjects Biological and medical sciences
Dermatology
Humans
Medical sciences
Point Mutation
Skin Neoplasms - genetics
Transcription Factors - genetics
Tumors of the skin and soft tissue. Premalignant lesions
title Hotspot Mutation of Brahma in Non-Melanoma Skin Cancer
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