The MDM4 SNP34091 rs4245739 C-allele is associated with increased risk of ovarian—but not endometrial cancerReportar como inadecuado

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Tumor Biology

, Volume 37, Issue 8, pp 10697–10702

First Online: 11 February 2016Received: 17 November 2015Accepted: 29 January 2016


The MDM4 protein also known as MDMX or HDMX is a negative regulator of p53, not only by direct interaction but also through its interaction with MDM2. Further, MDM4 overexpression and amplification have been observed in several cancer forms. Recently, a single nucleotide polymorphism SNP in the 3’ untranslated region of the MDM4 gene, SNP34091A > C rs4245739 was reported to alter MDM4 messenger RNA mRNA stability by modulating a microRNA binding site, thereby leading to decreased MDM4 levels. In this case-control study, we aimed to evaluate the possible association between MDM4 SNP34091 status and cancer risk by comparing the genotype frequencies in large hospital-based cohorts of endometrial- n = 1404 and ovarian n = 1385 cancer patients with healthy female controls n = 1870. Genotype frequencies were compared by odds ratio OR estimates and Fisher exact tests. We found that individuals harboring the MDM4 SNP34091AC-CC genotypes had a significantly elevated risk for serous ovarian cancer SOC in general and high-grade serous ovarian cancer HGSOC in particular SOC: OR = 1.18., 95 % CI = 1.01–1.39; HGSOC: OR = 1.25, CI = 1.02–1.53. No association between SNP34091 genotypes and endometrial cancer risk was observed. Our data indicate the MDM4 SNP34091AC-CC genotypes to be associated with an elevated risk for SOC and in particular the HGSOC type.

KeywordsMDM4 SNP34091 Cancer risk Ovarian cancer Endometrial cancer Helga B. Salvesen deceased.

Electronic supplementary materialThe online version of this article doi:10.1007-s13277-016-4940-2 contains supplementary material, which is available to authorized users.

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Autor: Liv B. Gansmo - Merete Bjørnslett - Mari Kyllesø Halle - Helga B. Salvesen - Anne Dørum - Einar Birkeland - Kristian 


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