Variaciones genéticas del gen supresor de tumores TP53: relevancia y estrategias de análisis

in the modern society, cancer remains an important cause of death. cancer development is a very complex process that involves alterations in genes regulating cellular growth. among these alterations or variations, are included point mutations, genetic susceptibility by single nucleotide polymorphisms or "snp" and alteration or loss in tumor suppressor genes functions. the tumor suppressor tp53 is one of the most important and studied genes on cancer genetics. therefore, it has been demonstrated that tp53 present mutations in more than 50% of all types of human cancer and encodes a multifunctional protein whose absence contributes to genomic instability, the accumulation of mutations and increased tumor development. the identification of such alterations in cancerous cells at level of single nucleotide is very important, because its implication in the loss or alteration in the function of this gene, its clinical relevance and finally, its association with response to therapy and prognosis. due to the large interesting issue, in this work we are focused only in two of the most common genetic variations present in this gene: the point mutations and snp remarking some outstanding molecular characteristics needed for design its analysis.