IP: Dra. Susana Puig Sarda

Resumen del proyecto: Melanoma is the most deadly skin cancer and its incidence continues increasing in Caucasian populations. If melanoma is diagnosed in its early stages, it can be cured with a simple surgical removal. However, when the diagnosis is delayed, melanoma is the tumour with the highest metastatic capacity since it increases by 10% for every millimeter thick. Despite the improvement in survival of the metastatic patients thanks to new targeted therapies, diagnosis and treatment of the initial tumour remains the best strategy for dealing with melanoma. For this reason, the identification of individuals at high risk of developing the disease and which patients will benefit from a particular treatment is essential to reduce melanoma mortality. The GWAS (Genome Wide Association Studies) studies have emerged as a powerful new tool for genetic analysis, because in contrast with studies of candidate genes, it does not require a prior knowledge about genes or genomic regions that may be involved in susceptibility or prognosis. The project aim is to study the prognosis and predictive value of response to treatment of germline variants identified in new candidate genes for melanoma using two different strategies (analysis of regions of homozygosity in melanoma susceptibility SNP arrays and prognosis SNP arrays). The goal is to develop a directed molecular panel that could let us know at the time of diagnosis, the risk of developing metastasis and which targeted therapy is the best, as well as the associated toxicity depending on the best treatment for our patient. Thereby it is intended to personalize the melanoma patient’s therapy and optimize the available resources.

Entidad financiadora: Instituto de Salud Carlos III