单核苷酸多态性
生物
遗传学
基因
表型
基因座(遗传学)
编码区
癌症
损失函数
基因型
作者
Catherine Whibley,Paul D.P. Pharoah,Monica Hollstein
出处
期刊:Nature Reviews Cancer
[Springer Nature]
日期:2009-02-01
卷期号:9 (2): 95-107
被引量:581
摘要
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.
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