Journal article

A polymorphic variant in human MDM4 associates with accelerated age of onset of estrogen receptor negative breast cancer.

Diptee A Kulkarni, Alexei Vazquez, Bruce G Haffty, Elisa V Bandera, Wenwei Hu, Yvonne Y Sun, Deborah L Toppmeyer, Arnold J Levine, Kim M Hirshfield

Carcinogenesis | Published : 2009

Abstract

Murine double minute 4 (MDM4) shares significant structural homology with murine double minute 2 (MDM2) and interacts and regulates transcriptional activity of the tumor suppressor p53. In tumors with wild-type p53, there is often overexpression of MDM2 or MDM4 leading to functional inactivation of p53. A single-nucleotide polymorphism (SNP) in the promoter of human MDM2 (SNP309) was shown to associate with increased MDM2 expression and increased risk of cancer. This study evaluated the association of a SNP in human MDM4 (C>T) with age of onset of breast cancer in two independent cohorts. In cohort 1 of 675 patients, the average age of diagnosis for women with estrogen receptor (ER)-positive..

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