A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans.

By Gareth L. Bond, Wenwei Hu, E. Bond, Harlan Robins, S. Lutzker, Nicoleta C. Arva, J. Bargonetti, F. Bartel, Helge Taubert, Peter Wuerl and 6 more. Cell, 2004

1,348 citations recorded by the source corpus.

Subfields: Cell Biology, Molecular Biology, Oncology

View Paper: https://www.semanticscholar.org/paper/d24056b204c12a7fd284e04315ed9e329352a4b9

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Citations in the corpus

p53 ubiquitination: Mdm2 and beyond. (2006, background): “Amplifications of the mdm2 gene in 7% of human tumors account for one mechanism of overexpression, and more recent data have shown that a naturally occurring polymorphism (SNP309) occurring within the mdm2 promoter leads to an increase in mdm2 mRNA and protein in human populations (Bond et al., 2004”
Transcriptional control of human p53-regulated genes (2008, background): “An example of Sp1-mediated DNA looping may be found in MDM2 , where a functional single-nucleotide polymorphism (SNP), SNP309 T/G, within a cluster of Sp1-binding sites affects the level of regulation of nearby oestrogen and p53 REs, and has been associated with an early onset of breast cancer in p”
TP53 mutations in human cancers: functional selection and impact on cancer prognosis and outcomes (2007, background): “There is mounting evidence that polymorphisms in gene regulating the TP53 pathway, including MDM2 and AKT1, are potential modifiers of TP53 gene functions (Bond et al., 2004; Harris et al., 2005).”
The antioxidant function of the p53 tumor suppressor (2005, background): “) or upregulation of MDM2 from a polymorphic allel”
A variable number of tandem repeats polymorphism in an E2F-1 binding element in the 5′ flanking region of SMYD3 is a risk factor for human cancers (2005, background): “A SNP in the MDM2 promoter enhances expression of MDM2 by increasing its affinity for the transcription activator Sp1; this polymorphism associates with accelerated tumor formation in hereditary and sporadic human cancer”
p53 in health and disease (2007, background): “The potential importance of what might seem to be only slight changes in p53 regulation is further illustrated by a polymorphism in the MDM2 promoter that results in modest changes in the levels of the MDM2 protein, one of the key regulators of p53 stability and function, that can have a profound ”
p53 polymorphisms: cancer implications (2009, background): “Although several polymorphisms have been identified in MDM2 , a T>G SNP at nucleotide 309 in the first intron has been the most intensively characterized polymorphis”
The first 30 years of p53: growing ever more complex (2009, neutral): “The clinical relevance of the intricate MDM2–p53 interplay was brought further into focus by the discovery of a single nucleotide polymorphism (SNP) in the human MDM2 gen”