Genotypic and phenotypic correlations with dermoscopic naevus types and distribution
Conducted by Professor H Peter Soyer (UQ DRC), Associate Professor Rick Sturm (UQ DRC), Dr David Duffy (QIMR Berghofer), Associate Professor Helmut Schaider (UQ DRC) and Professor Mark Smithers (PAH Melanoma Unit).
Aim of the study: To examine the relationship between the types of moles a person carries, including number, size, distribution, profile, and colour of melanocytic naevi, freckling score with their genetic risk of development of melanoma.
Description: We are combining dermoscopic examination of naevi of volunteers and melanoma patients drawn from Brisbane and surrounding areas (BNMS population), with genetic testing of germline DNA. We are also examining DNA isolated from naevi excised from a subset of volunteers for somatic mutations. The participants have had their pigmentation phenotype, melanoma history and whole body scans for naevi characteristics recorded.
Status: This is a continuing, ongoing case-control and longitudinal study. We currently have over 1000 participants who have been clinically examined and for which DNA genotyping has been performed using high density Illumina CoreExome Chips covering over 500,000 SNPs. Recruitment to the study is ongoing with the aim of ascertaining a total of 1600 participants. Statistical analysis and correlation of genetic and phenotypic data is proceeding, however this research has already produced two high profile publications in the Dermatology arena [Sturm et al, Journal of Investigative Dermatology, 134:141-149 (2014). McClenahan et al, JAMA Dermatology, 150:1079-1082 (2014)].