Cutaneous malignant melanoma (CMM) represents a significant health problem in Caucasian populations worldwide, with particularly high incidence in Australia. The 5-year survival rate is dramatically higher for patients diagnosed early. An understanding of the genetic factors influencing risk of developing melanoma is critical to identifying at-risk individuals. Characterisation of how these genetic defects contribute to CMM initiation and/or progression could also lead to the development of novel chemopreventative and therapeutic treatments.
A range of projects are underway which seek to identify the specific genes involved in melanoma risk. These focus on assessing the role of both common and rare genetic sequence variants. In recent years we have shown a number of pigmentation related genes are important in determining risk. Subsequently we also identified other loci without an obvious pigmentation function, suggesting genetic variation underlying other processes (e.g. DNA repair) is also important.
We are also investigating the role of genetic variants in determining outcome in people diagnosed with melanoma. Our focus in on survival time following diagnosis; we also consider factors influencing survival such as tumour thickness.