Associations of MDM2 and MDM4 Polymorphisms with Early-Stage Breast Cancer

Abstract

Breast cancer is one of the most common cancers worldwide. Single nucleotide polymorphisms (SNPs) in MDM2 and MDM4 have been associated with various cancers. However, the influence on clinical characteristics of breast cancer has not been sufficiently investigated yet. Thus, this study aimed to investigate the relationship between SNPs in MDM2 (rs2279744, rs937283, rs937282) and MDM4 (rs1380576, rs4245739) and I–II stage breast cancer. For analysis, the genomic DNA was extracted from 100 unrelated women peripheral blood. Polymorphisms were analyzed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The study showed that MDM2 rs937283 and rs937282 were significantly associated with estrogen receptor status and human epidermal growth factor receptor 2 (HER2) status. SNPs rs1380576 and rs4245739, located in MDM4, were significantly associated with status of estrogen and progesterone receptors. Our findings suggest that rs937283 AG, rs937282 CG, rs1380576 CC, and rs4245739 AA genotypes were linked to hormonal receptor positive breast cancer and may be useful genetic markers for disease assessment.

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“…Similarly, Beaver et al reported a sensitivity of 93.3% and specificity of 100% among a small cohort (29 patients) with PIK3CA mutations [17]. Other groups have investigated additional mutations among ctDNA as biomarker targets for the detection of early breast cancer, including 5-Hydroxymethylcytosine, MDM2 and MDM4, and AKT1 [18][19][20].…”

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“…12a). In contrast, MDM2 , which plays important roles in the regulation of cellular p53 activity by a dual mechanism of degradation and transcriptional repression 18 , showed association with breast cancer prognosis (Extended Data Fig. 12a).…”