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Common genetic variants in the TP53 pathway and their impact on cancer

31 May 2019

Abstract excerpt

The TP53 gene is well known to be the most frequently mutated gene in human cancer. In addition to mutations, there are > 20 different coding region single-nucleotide polymorphisms (SNPs) in the TP53 gene, as well as SNPs in MDM2, the negative regulator of p53. Several of these SNPs are known to alter p53 pathway function. This makes p53 rather unique among cancer-critical genes, e.g. the coding regions of other...

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PMID: 31152665
DOI: 10.1093/jmcb/mjz052

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