Friday, February 13, 2009

p53 - Maybe Genetics Doesn't Load the Gun After All

NATURe RevIewS CanCer voLUMe 9 FeBRUARy 2009 95
p53 polymorphisms: cancer implications
Catherine Whibley*, Paul D. P. Pharoah‡ and Monica Hollstein*

Abstract The normal functioning of p53 is a potent barrier to cancer. Tumour-associated mutations in TP53, typically single nucleotide substitutions in the coding sequence, are a hallmark of most human cancers and cause dramatic defects in p53 function. By contrast,
only a small fraction, if any, of the >200 naturally occurring sequence variations (single nucleotide polymorphisms, SNPs) of TP53 in human populations are expected to cause measurable perturbation of p53 function. Polymorphisms in the TP53 locus that might have cancer-related phenotypical manifestations are the subject of this Review. Polymorphic variants of other genes in the p53 pathway, such as MDM2, which might have biological consequences either individually or in combination with p53 variants are also discussed.
BrooklynDodger(s) comment: No highlights here, because the full text doesn't have much fat, although little information. The expression of the p53 gene leads to cell suicide, apoptosis. Something you want in a tumor cell. Defective p53 lets the tumor cell grow in the face of other triggers for apoptosis, so it's logical that p53 mutations are found in tumor cells. The review suggests that few defective p53 genotypes are found in the human population, meaning that it's not a place for specially sensitive populations.

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