Molecular Epidemiology of Breast Cancer among Iranian-Azeri Population based on P53 Research

Abstract

<strong>Background:</strong> This study was done in order to enhance our understanding about molecular and epidemiological features of breast cancer among the Azeri population with special emphasis on the detection of <em>TP53</em> mutations. We also analyzed the role of the <em>P53</em>codon72 polymorphism (rs1042522) and its role in susceptibility to breast cancer. <strong>Methods:</strong> Tumor and control samples were collected from 248 patients and 189 controls. <em>TP53</em> mutations in exons4-9 and adjacent intronic regions were detected by direct sequencing in 130 of these tumor samples. Allele-specific PCR amplification (ARMS-PCR) was used to detect polymorphisms at <em>P53</em>codon72 in 248 patients and 189 controls. Data were analyzed using <em>χ2</em> test or Fisher's exact and a <em>p</em> value of <0.05 was considered significant. <strong>Results:</strong> We identified alterations in 17.69% of the exonic and intronic regions within the <em>TP53</em>. We detected 23 mutant and 107 non-mutant samples. These mutations comprised 21 single-base substitutions (15-transitions and 6-transversions), one deletion and one complex. Exon6 was identified as a highly mutable region, with ten out of all 23 (43.47%) observed mutations. We did not observe a significant association between polymorphism and mutation status (<em>p</em>>0.05). Also, the results did not show a significant correlation between <em>P53</em> mutational status and clinicopathological features. Distribution differences in the <em>P53</em>codon72 polymorphism between the cases and controls were not statistically significant (<em>p</em>>0.05). <strong>Conclusion:</strong> It might be concluded that <em>P53</em> mutational status and codon72 polymorphism could not be considered as biomarker for breast cancer risk and its clinical features in the studied population. However, further investigations are needed to support these findings.