- 27 July 2017
1:00 pm - 2:00 pm
Thursday 27 JULy 2017, 1.00 PM
Auditorium, Level 6, Bancroft Building
Melanomas from where the sun don’t shine
Professor Nick Hayward,
QIMR Berghofer Medical Research Institute
Australia has the highest incidence of cutaneous melanoma worldwide, where it is the fourth most common cancer and a leading cause of cancer death in young adults. Late stage metastatic melanoma was until very recently usually rapidly fatal. However, inhibitors of the MAP kinase pathway and of immune checkpoint mechanisms have dramatically extended patient survival, highlighting the importance of identification of therapeutic targets in cancer through molecular characterization. To comprehensively extend the molecular characterization of melanoma, the Australian Melanoma Genome Project (AMGP) aims to analyse whole genomes from 500 primary and metastatic melanomas. To date, whole genome sequencing (WGS) has been completed on matched tumour and blood DNA from 183 patients with cutaneous, acral or mucosal subtypes of melanoma. The landscape of coding and non-coding mutations in cutaneous melanoma showed signatures of ultraviolet radiation induced mutagenesis. In contrast, acral and mucosal melanomas had mutation signatures of unknown aetiology and were dominated by structural changes. Almost all melanomas had potentially actionable mutations, and most of these were in components of the mitogen-activated protein kinase and phosphoinositol kinase pathways.
Nick Hayward obtained his PhD from the University of Queensland in 1983 and is currently Head of the Oncogenomics Laboratory and Deputy Coordinator of the Cancer Program at the QIMR Berghofer Medical Research Institute. He has studied the molecular genetics of melanoma for >30 years and is a foundation member of the International Melanoma Genetics Consortium (GenoMEL) and the Society for Melanoma Research. His work spans molecular epidemiology, genetics, genomics, cell biology and mouse models of melanoma. He played key roles in the identification of CDK4, MITF, POT1, ACD and TERF2IP as familial melanoma susceptibility genes and has contributed significantly to several genome-wide association studies for melanoma and the associated phenotypic traits of pigmentation and naevi. Through his extensive research collaborations he has contributed to the understanding of key somatic mutations that drive melanocyte neoplasia, including the seminal findings of BRAF mutations in naevi, and MAP3K5, MAP3K9, RASA2 and RAC1 mutations in melanoma. He is currently a principal investigator of the Australian Melanoma Genome Project – an endeavour that aims to characterize the genomic landscape of somatic mutations and chromosomal aberrations in >500 melanomas.