Identification of Risk Factors, Exposomics and Genetic Susceptibility of Melanoma in Children, Adolescents and Young Adults

By retrieving data from several epidemiological and clinical registries across Europe we aim to create a large dataset that serves for a comprehensive analysis of genetic and environmental factors influencing the etiology of melanoma in CAYA. Data on climate variables such as surface temperature, solar radiation, and air pollutants will be collected from ground-based instruments, such as air quality monitoring stations, and satellites and reanalysis data from the Copernicus Atmosphere Monitoring Service (CAMS). Data analysis from genome sequencing will be done using established bioinformatic pipelines and combined with exposome information about climate and pollution for the development of a weighted risk score.

Genome and transcriptome sequencing of blood and in selected cases tumour will provide the most comprehensive data to create a polygenic risk score for melanoma in CAYA.

We will develop a weighted risk score for each environmental factor, which comprises the effects of several variables measuring the respective risk factor. Additionally, a weighted risk score for the epigenetic variables will be build. To estimate the relative contribution of environmental and epigenetic factors we will calculate the relative importance (proportion of explained variance) of the weighted risk scores in an ordinary linear regression model using the Lindeman-Merenda-Gold (LMG) method.

The detected risk factors and determinants will be used by health professionals to update clinical guidelines for prevention, screening and early detection of melanoma in CAYA. Health care system strategies will be implemented in European countries overcoming current gaps in European countries on prevention and diagnosis of melanoma in CAYA. The success will be measured by incidence rates of melanoma.