Polymorphisms in MDM4 Gene: Effects on Clinicopathological Characteristics in Breast Cancer Patients

Abstract

Background and Objectives Breast cancer is one of the most common malignancy among women. The main clinical parameters (tumor size, status of estrogen, progesterone, HER2 receptors, lymph node involvement, tumor histological grade, etc.) are indicators routinely used in clinical practice to assess the prognosis of the disease and to select treatment methods. Genetic factors also play a substantial role in breast cancer. The evidence suggests that the MDM family may be related to breast development, function and protection from cancer. The elevated level of the MDM family member MDM4 is associated with various human cancer types (including breast cancer). This suggests that single nucleotide polymorphisms (SNPs) in the MDM4 gene may have functional implications for breast cancer morphology. However, the effect of SNPs in MDM4 gene has not been sufficiently studied yet. The aim of the current study was to evaluate the influence of polymorphisms in MDM4 gene on the clinical and morphological characteristics of breast cancer. Material and Method A total of 100 patients (with mean age of 42 years) with breast cancer were enrolled in the study. For SNP analysis genomic DNA was extracted from peripheral blood leukocytes. SNPs (rs1380576 and rs4245739) in MDM4 gene were analyzed by the polymerase chain reaction-restriction fragment polymorphism (PCR-RFLP) assay. All clinical and tumor pathomorphological data of the patients were obtained from the medical records by the oncologists. Informed consent was obtained from every participant. Study data included the age at diagnosis, pathological tumor size (pT), status of pathological lymph node involvement, status of estrogen, progesterone and human epidermal growth factor receptor 2 (HER2), intrinsic subtype (luminal A, luminal B, HER2 or triple negative), tumor grade (G1 and G2, G3), progress, metastasis and death. The associations between SNPs and... [...].