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 |
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creator | Moloney, Fergal J. Lyons, J Guy Bock, Vanessa L. Huang, Xiao X. 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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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. 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This previously unreported hotspot mutation occurs in a highly conserved region of the BRM gene.</description><subject>Biological and medical sciences</subject><subject>Dermatology</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Point Mutation</subject><subject>Skin Neoplasms - genetics</subject><subject>Transcription Factors - genetics</subject><subject>Tumors of the skin and soft tissue. 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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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