Pigmentation Genotypes (MC1R) and Phenotypic Correlations with dermoscopic naevus types and distribution

This project is conducted by Professor H. Peter Soyer (UQ DCR) in collaboration with Associate Professor Rick Sturm (UQ IMB/DRC), Professor David Duffy (QIMR) and Associate Professor Mark Smithers (PAH Melanoma Unit).

The aims of the study are:  

(1) To examine the relationship between genes, the dermoscopic characteristics of melanocytic naevi and melanoma risk.

(2) To characterise genes that influence the probability of an individual carrying particular naevus subclasses.

The study involves full body photography and dermoscopy of individual naevi, allowing a detailed description of their morphology. Digital photographs of hair and eyes are taken to document pigmentary phenotype, and skin pigmentation is measured with spectrophotometer. Saliva samples are collected for genotyping.

The project has so far involved 574 participants, with 272 high melanoma risk and 302 control participants recruited, imaged and gene sampled.  The large collection of data on phenotypic characteristics, dermoscopic pattern and genotype for pigmentation genes was published in the Journal of Investigative Dermatology in 2013.  Recent success in securing a second NHMRC project grant has ensured funding through till 2017.


Sturm, R. A., Fox, C., McClenahan, P., Jagirdar, K., Ibarrola-Villava, M., Banan, P., Abbott, N. C., Ribas, G., Gabrielli, B., Duffy, D. L. & Soyer, H. P. (2013). Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients. Journal of Investigative Dermatology. 2013 Jun 17. doi: 10.1038/jid.2013.272.