Whole exome sequencing (WES) data for 384 melanoma patients has allowed us to initiate germline genomic analysis of patients at high risk of melanoma. 

  1. This database of rare deleterious variant alleles has allowed us to search for known, actionable familial melanoma gene mutations and for candidate genes to analyse overall genetic risk for melanoma.
  2. We are developing rare variant polygenic risk scores (RVPRS) for melanoma, melanoma by age, and single vs multiple melanoma using this information.
  3. The melanoma RVPRS and common PRS values will be compared and combined with our published odds ratios for MC1R/TNC risk for melanoma family history and high penetrant carrier status (CDKN2A mutation) into a combined melanoma risk score (CMRS). 

This quantitative approach to phenotypic and genotypic personalized risk of melanoma will be used to develop protocols for targeted melanoma screening in high risk individuals and families followed longitudinally with 3D total body photography.

Student projects

  • Genetics of human pigmentation traits including comparing individuals of high and low TNC, and looking at genes controlling naevus morphology, freckling and eye colour.
  • Cell biology of human pigmentation and naevogenesis, whereby the laboratory is growing primary cultures of human melanocytes to assay function of genes and examine the UV induced tanning response.
  • Whole exome sequence and bioinformatic analysis of patients at high risk of melanoma and cell culture of melanocytic lesions.