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Proyectos de investigación » Identification of genetic factors in individuals with melanocytic nevus and its role on the BRAF(V600E) mutation detection in plasma.
Título: Identification of genetic factors in individuals with melanocytic nevus and its role on the BRAF(V600E) mutation detection in plasma.
IP: Dr. Josep Malvehy Guilera
Resumen del proyecto: Melanoma is the most aggressive skin cancer and its incidence has been continuously increasing in Caucasian populations during the last decades. 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 tumor with the highest metastatic capacity since it increases by 10% per millimeter of thickness. Thus, prevention and early diagnosis are the main strategies to reduce the mortality of the disease. For this purpose, it is necessary to identify those individuals with a high risk of developing melanoma. The presence of a high number of benign melanocytic nevi or the presence of clinically atypical nevi are two factors that confer greater risk for the development of the melanoma. Nevogenesis is a multifactorial and polygenic process of which only a reduced number of genes is known. Thus, the aim of the project is to identify genetic variants involved in the risk of developing benign melanocytic lesions and / or their dermatoscopic characteristics. To this effect, genes of candidate molecular pathways will be analyzed, such as genes in the estrogen receptor-related signaling pathway and the network of cytokines and chemokines involved in cutaneous inflammatory processes. Genotyping of the variants will be carried out in germline DNA by the OpenArray technology. The analysis will include phenotypic data and the dermoscopic information of the lesions from healthy individuals and melanoma patients classified according to the number of nevi.
Entidad financiadora: Ministerio de Economía y Competitividad