Abstract

The p53 tumor suppressor pathway plays a major role in tumor development and cell survival. Germline single nucleotide polymorphisms (SNP)s in codon 72 of TP53 (Arg72Pro; rs1042522) and in the promoter region of the ubiquitin ligase MDM2 (-309; rs2279744) influence apoptotic activity in response to cellular stress. In vitro studies have demonstrated that cells homozygous for Arg72 in p53 have significantly increased apoptotic activity in response to cellular stress, while cells homozygous for Pro72 have increase in cell cycle arrest and DNA repair.

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