| Literature DB >> 21316605 |
Stian Knappskog1, Merete Bjørnslett, Line M Myklebust, Petra E A Huijts, Maaike P Vreeswijk, Hege Edvardsen, Yongli Guo, Xuemei Zhang, Ming Yang, Sanna K Ylisaukko-Oja, Pia Alhopuro, Johanna Arola, Rob A E M Tollenaar, Christi J van Asperen, Caroline Seynaeve, Vidar Staalesen, Ranjan Chrisanthar, Erik Løkkevik, Helga B Salvesen, D Gareth Evans, William G Newman, Dongxin Lin, Lauri A Aaltonen, Anne-Lise Børresen-Dale, Grethe S Tell, Camilla Stoltenberg, Pål Romundstad, Kristian Hveem, Johan R Lillehaug, Lars Vatten, Peter Devilee, Anne Dørum, Per E Lønning.
Abstract
MDM2 plays a key role in modulating p53 function. The MDM2 SNP309T > G promoter polymorphism enhances Sp1 binding and has been linked to cancer risk and young age at diagnosis although with conflicting evidence. We report a second MDM2 promoter polymorphism, SNP285G > C, residing on the SNP309G allele. SNP285C occurs in Caucasians only, where 7.7% (95% CI 7.6%-7.8%) of healthy individuals carry the SNP285C/309G haplotype. In vitro analyses reveals that SNP309G enhances but SNP285C strongly reduces Sp1 promoter binding. Comparing MDM2 promoter status among different cohorts of ovarian (n = 1993) and breast (n = 1973) cancer patients versus healthy controls (n = 3646), SNP285C reduced the risk of both ovarian (OR 0.74; CI 0.58-0.94) and breast cancer (OR 0.79; CI 0.62-1.00) among SNP309G carriers.Entities:
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Year: 2011 PMID： 21316605 DOI： 10.1016/j.ccr.2010.12.019
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 31.743