Article
The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck.
Journal of medical genetics - 1 Sept 2005
Alhopuro P, Ylisaukko-Oja S K, Koskinen W J, Bono P, Arola J, Järvinen H J, Mecklin J-P, Atula T, Kontio R, Mäkitie A A, Suominen S, Leivo I, Vahteristo P, Aaltonen L-M, Aaltonen L A
Abstract excerpt
BACKGROUND: MDM2 acts as a principal regulator of the tumour suppressor p53 by targeting its destruction through the ubiquitin pathway. A polymorphism in the MDM2 promoter (SNP309) was recently identified. SNP309 was shown to result, via Sp1, in higher levels of MDM2 RNA and protein, and subsequent attenuation of the p53 pathway. Furthermore, SNP309 was proposed to be associated with accelerated soft tissue...
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