Bioinformatics Seminars

Bioinformatics Seminar

Time: 11AM
Venue: Zoom Webinar

22 March 2022

Genomics of melanoma subtypes: whole genome sequencing of 570 tumours

Felicity Newell

Cutaneous melanoma (CM) is the most common form of melanoma in Australia and is associated with the mutagenic effects of ultraviolet radiation. Melanoma can also occur in the eyes (uveal subtype, UM), internal mucosal membranes (mucosal, MM) and the non-hair bearing palms, soles and nail beds (acral, AM). In this presentation, I will discuss some of the results from the Australian Melanoma Genome Project, a project involving the use of whole genome sequencing (WGS) to better understand the genomic landscape of the major melanoma subtypes. In particular, I will focus on our recent comparison of 570 melanoma tumours from the different subtypes. I will show that UM is genomically distinct from other subtypes of melanoma. In contrast, the majority of CM, AM, and MM share similar requirements for tumourigenesis and alterations in components of the MAPK, PI3K, P53, p16 and telomere pathways are common. However, the mechanism by which these pathways are activated or inactivated differs between the subtypes.

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