Journal
JOURNAL OF INVESTIGATIVE DERMATOLOGY
Volume 129, Issue 4, Pages 1012-1015Publisher
ELSEVIER SCIENCE INC
DOI: 10.1038/jid.2008.319
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Funding
- National Health and Medical Research Council of Australia [402548]
- Beaumont Transplant Foundation, Ireland
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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.
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