MPCUK

Professor Julia Newton-Bishop is Professor of Dermatology at the University of Leeds, UK. She leads the melanoma research group within the Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds, lead by Tim Bishop. The research group uses genetics to understand susceptibility to melanoma and survival from melanoma. She is a fellow of the Academy of Medical Sciences in the UK.

Julia’s group worked primarily initially on understanding inherited genetic variation, which increased susceptibility to melanoma. In the course of this, the need for groups to work together became apparent and she therefore instigated the melanoma genetics consortium www.genomel.org in 1997. This group of scientists from around the world have collaborated together ever since, working to determine melanoma risk for high-penetrance susceptibility genes like CDKN2A and CDK4, and to find new such genes. The group has been funded by the NIH, and more recently by the EU as a Network of Excellence (NoE). The NoE funding allowed the consortium to perform a genome wide association study which has now resulted in the identification of 17 SNPs associated with melanoma risk and 2 not yet quite genome wide significant. Of particular importance is that these SNPs are concentrated in pigmentation pathways (as expected), or are associated with number of naevi or telomere length. More recently, the Leeds group working with the Sanger Institute (David Adams) reported inherited variation in POT1 (protection of telomeres 1) as a familial melanoma gene. This and the previous report of inherited variation in the TERT gene by Kumar’s group in Heidelberg have further highlighted the importance of the telomere in melanoma biology.

In recent years the Leeds group has worked to understand survival, reporting transcriptomic data from large numbers of formalin fixed primary tumours. The group have reported evidence that inherited variation in a number of genes (MC1R, PARP1 and the gene coding for the vitamin D binding protein) is associated with outcome implying that inherited variation plays a role in survival. The group has reported that higher vitamin D levels at diagnosis are associated with better survival and has investigated the biological basis of microscopic ulceration.