Analysis of Sdhd and Mmp12 in an affected solar keratosis and control cohort

Lintell , N. A., Maguire, David J., Griffiths, Lyn R., & McCabe , M. (2008) Analysis of Sdhd and Mmp12 in an affected solar keratosis and control cohort. Advances in Experimental Medicine and Biology, 599, pp. 79-85.

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The incidence of Squamous Cell Carcinoma (SCG) is growing in certain populations to the extent that it is now the most common skin lesion in young men and women in high ultraviolet exposure regions such as Queensland. In terms of incidence up to 40% of the Australian population over 40 years of age is thought to possess the precancerous Solar Keratosis (SK) lesion and with a small, but significant, chance of progression into SCC, understanding the genetic events that play a role in this process is essential. The major aims of this study were to analyse whole blood derived samples for DNA aberrations in genes associated with tumour development and cellular maintenance, with the ultimate aim of identifying genes associated with non-melanoma skin cancer development. More specifically the first aim of this project was to analyse the SDHD and MMP12 genes via Dual-Labelled Probe Real-Time PCR for copy number aberrations in an affected Solar Keratosis and control cohort. It was found that 12 samples had identifiable copy-number aberrations in either the SDHD or MMP12 gene (this means that a genetic section of either of these two genes is aberrantly amplified or deleted), with five of the samples exhibiting aberrations in both genes. The significance of this study is the contribution to the knowledge of the genetic pathways that are malformed in the progression and development of the pre-cancerous skin lesion Solar Keratosis. © 2008 Springer Science+Business Media, LLC.

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ID Code: 63133
Item Type: Journal Article
Refereed: Yes
Additional Information: 17727250
Keywords: macrophage elastase, succinate dehydrogenase, succinate dehydrogenase subunit d, unclassified drug, MMP12 protein, human, SDHD protein, human, actinic keratosis, Australia, chromosome aberration, cohort analysis, conference paper, gene amplification, gene identification, gene mutation, genetic analysis, genetic association, human, precancer, priority journal, radiation exposure, real time polymerase chain reaction, respiratory chain, skin cancer, skin carcinogenesis, squamous cell carcinoma, adult, article, female, genetics, keratosis, male, mutation, skin tumor, sunlight, ultraviolet radiation, Adult, Australia, Carcinoma, Squamous Cell, Cohort Studies, Female, Humans, Keratosis, Male, Matrix Metalloproteinase 12, Mutation, Skin Neoplasms, Succinate Dehydrogenase, Sunlight, Ultraviolet Rays
DOI: 10.1007/978-0-387-71764-7_11
ISSN: 0065-2598
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2008 Springer New York LLC
Deposited On: 04 Oct 2013 01:34
Last Modified: 25 Oct 2016 23:41

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