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Thesis

Spanish

ID: <

http://hdl.handle.net/10251/17883

>

Where these data come from
Caracterización del gen CYP2R1 y validación de otros SNPs de interés en susceptibilidad a melanoma en población española

Abstract

[EN] In spite of Melanoma being one of the less frequent types of skin cancer is the most deadly one. Melanoma causes damage to the DNA of the melanocytes cells, producing mutations that make the cells multiply abnormally and therefore produce tumors. The frequency of melanoma increases from adolescence with very high incidences in countries like Australia, New Zealand, South Africa and United States with non-indigenous population exposed to local solar radiation. Caucasian populations are 10 times more risk of developing cutaneous melanoma that Asian or African populations, however acral melanomas are more common in non Caucasian populations. The aim of this work has been, first, the validation in the Spanish population of genetic markers identified in high-throughput studies such as GWAS and second, the evaluation of the CYP2R1 gene (involved in the pathway of vitamin D synthesis) in melanoma in the Spanish population. The proposed work has been done taking into account: LD analysis of all the genetic region, selection of tag-SNPs, analysis of haplotypes and case-control study of the different selected markers.

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