title: Analysis of SDHD and MMP12 in an affected solar keratosis and control cohort.
abstract: 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.
authors.affiliation: School of Biomolecular and Biomedical Science, Griffith University, Queensland 4111, Australia.
authors.forename: N A
authors.initials: NA
authors.lastname: Lintell
authors.forename: D J
authors.initials: DJ
authors.lastname: Maguire
authors.forename: L R
authors.initials: LR
authors.lastname: Griffiths
authors.forename: M
authors.initials: M
authors.lastname: McCabe
mesh_terms: D000328:Adult; D001315:Australia; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007642:Keratosis / Q000235:genetics*; D008297:Male; D053508:Matrix Metalloproteinase 12 / Q000032:analysis / Q000235:genetics*; D009154:Mutation; D012878:Skin Neoplasms / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000032:analysis / Q000235:genetics*; D013472:Sunlight / Q000009:adverse effects*; D014466:Ultraviolet Rays
chemical_list: C491545:SDHD protein, human; D013385:Succinate Dehydrogenase; C507122:MMP12 protein, human; D053508:Matrix Metalloproteinase 12