Research Focus
The laboratory’s principal focus is on the molecular genetics of melanoma, a topic we have researched for more than 35 years.
We aim to identify melanoma susceptibility genes and study the way in which defects, or variants, in these genes are associated with melanoma predisposition or development. Improved understanding of the genetic events underlying melanoma susceptibility may lead to better ways of diagnosing or treating these cancers.
A complementary area of interest for the laboratory centres on applying a range of high throughput ‘omics’ technologies to comprehensively characterise the genomic landscape of the various melanoma subtypes. This information will provide potential avenues for development of new therapies.
Gallery
Research Projects
Current Research Projects
Played key roles in the identification of CDK4, MITF, POT1, ACD and TERF2IP as familial melanoma susceptibility genes
Contributed significantly to many genome-wide association studies for melanoma and the associated phenotypic risk traits of pigmentation and naevi
Contributed to the understanding of key somatic mutations that drive melanocytic neoplasia, including roles in the seminal findings of BRAF mutations in naevi, and novel driver mutations in cutaneous, acral, mucosal and uveal melanoma
Funding
- National Health and Medical Research Council
- Cure Cancer Australia
- Melanoma Research Alliance (USA)
- National Institutes of Health (USA)
- Department of Defence (USA)
Publications
Johansson PA, Palmer JM, Hamilton HR, Whiteman DC, Pritchard AL, Hayward NK. Germline Variants in Childhood Cutaneous Melanoma. J Invest Dermatol. 2023 Aug;143(8):1610-1613.
Johansson PA, Hayward NK, Pritchard AL. Immune signatures in cutaneous melanoma correlate with survival independently of immunotherapy treatment. Pigment Cell Melanoma Res. 2023 Mar;36(2):246-251.
Lee H, Ferguson AL, Quek C, Vergara IA, Pires daSilva I, Allen R, Gide TN, Conway JW, Koufariotis LT, Hayward NK, Waddell N, Carlino MS, Menzies AM, Saw RPM, Shklovskaya E, Rizos H, Lo S, Scolyer RA, Long GV, Palendira U, Wilmott JS. Intratumoral CD16+ macrophages are associated with clinical outcomes of patients with metastatic melanoma treated with combination anti-PD-1 and anti-CTLA-4 therapy. Clin Cancer Res. 2023 Feb 15:CCR-22-2657.
Student Projects
Further Information
- Members of the Melanoma Institute Australia
- Members of GenoMEL, International Melanoma Genetics Consortium
- Dr Kevin Brown, National Cancer Institute, Bethesda, USA
- Dr Antonia Pritchard, University of Highlands and Islands, Inverness, Scotland