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Approved research

Genetic epidemiology of melanoma and melanoma survival

Principal Investigator: Professor David Bishop
Approved Research ID: 3071
Approval date: October 1st 2015

Lay summary

The aims of the research are: 1. To identify genetic determinants of risk of melanoma skin cancer, 2. To understand the relationship between these loci and melanoma-associated phenotypes (skin pigmentation, freckling) 3. To examine the relationship between sun exposure, genetic susceptibility and risk of melanoma 4. To examine biomarkers (including genetic and biochemical factors) of outcome following a diagnosis of melanoma. The study includes all recruited melanoma cases (diagnosed BEFORE or AFTER recruitment) and a matched set of controls (age, sex, region, SES). This is a data-only application. Melanoma skin cancer continues to increase in incidence primarily because of behaviour in the sun. We have made progress in understanding the genetic determinants of risk and now wish to understand how these genetic factors interact with sun exposure - also how these susceptibilities are evident in terms of identifiable phenotypes which would suggest approaches to public health prevention. Also, we have seen that particular biomarkers implicate systemic inflammation as a risk factor for cancer recurrence. We wish to evaluate this further and attempt to define other biomarkers which might serve as indicators of high risk of melanoma recurrence. We have identified to date 24 genetic variants which convincingly increase the risk of melanoma and have a larger number of variants which are close to genome-wide significance. By reviewing the evidence from UKBiobank we can identify further genetic variants which pass the threshold. Some of the melanoma associated genetic variants also influence melanoma-associated risk phenotypes which are also measured in UKBiobank. We will examine if the genetic variants relate to these phenotypes. By reviewing systemic biomarkers measured in UKBiobank, we will assess if any of these influence outcome among melanoma patients. Analyses focused on melanoma will involve all melanoma cases plus 3 controls for each case. However, some of the analyses involve examining the association between identified melanoma SNPs and risk phenotypes such as skin pigmentation and freckling which are measured in all UK Biobank participants. For these analyses, we request access to information on all participants.