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Abstract
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Background: MDM4 is a negative regulator of p53 tumor suppression pathway. Various studies reveal the fact
that the rs4245739A > C polymorphism of MDM4 in 3′-untranslated region is targeted by miR-191 which leads
to lower MDM4 expression. On the other hand, the importance of Arg72Pro polymorphism of p53 in breast
cancer is proven. The aim of this study is to present the correlation between the aforementioned SNPs and the
risk of breast cancer. The statistical society of the study includes 199 healthy women as the control group and
206 women suffering from breast cancer included from Turkish population of the East Azarbaijan.
Results: Alleles of both positions are detected through Tetra-ARMS PCR while SPSS and the SHEsis, online
software was exerted for allele typing, genotyping, and haplotype analysis. Different alleles of both MDM4
rs4245739 and p53 Arg72Pro had no significant frequency in patients (P > 0.05). Furthermore, genotypes of
neither MDM4 rs4245739 nor p53 Arg72Pro could increase or decrease the risk of breast cancer in patients
compared to healthy women. Additionally, a significant factor affecting the risk of breast cancer is gene-gene
interaction. The results of the ongoing study revealed that two genetic variants, MDM4 rs4245739 and p53
Arg72Pro polymorphisms, failed to be associated, individually and combined together, with the risk of breast
cancer. However, additional well-designed studies on large populations are required to validate such an association.
Conclusion: Various alleles of both SNPs had no significant frequency difference between patients and controls.
Moreover, genotypes of neither MDM4 nor p53 were significantly distributed in women with breast cancer
compared to the healthy controls. Meanwhile, haplotype analysis failed to be significant. Last but not least, all
clinical manifestations, other than association between tumor size and MDM4 genotypes could not be correlated
with either various alleles or genotypes.
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