Linking mutational patterns to disease understanding and treatment
Conducted by Professor Matt Brown (QUT), Professor H Peter Soyer (UQ DRC), Dr Paul Leo (QUT) and Associate Professor Tarl Prow (UQ DRC), with research funding provided by Leo Pharma A/S.
Aim of the study: (1) To determine if all Actinic Keratosis (AK) lesions have the ability to convert to Squamous Cell Carcinomas (SCC). (2) To determine if all SCCs have the ability to convert to invasive SCCs. (3) To determine how much genomic and phenotypic complexity exists in AKs and SCCs.
Description: The role of UV in the causation of SCC is indisputable, however very little is known about the genetic and molecular events that drive SCC development. The current model of SCC formation involves the transformation of AKs by the acquisition of mutations due to cumulative UV exposure. However, not all AKs progress to SCC and not all SCCs become invasive. We are looking at the genetic and biological changes in skin samples collected from participants to determine what genes are involved in the transformation pathway.
Status: Both saliva/blood and lesional samples have been collected from 25 participants with DNA and RNA extracted for next generation sequencing to determine variations in the whole exome or transcriptome. Sequencing and the subsequent analysis is currently underway.