Molecular Epidemiology of Breast Cancer among Iranian-Azeri Population based on P۵۳ Research

Background: 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 TP۵۳ mutations. We also analyzed the role of the P۵۳codon۷۲ polymorphism (rs۱۰۴۲۵۲۲) and its role in susceptibility to breast cancer. Methods: Tumor and control samples were collected from ۲۴۸ patients and ۱۸۹ controls. TP۵۳ mutations in exons۴-۹ and adjacent intronic regions were detected by direct sequencing in ۱۳۰ of these tumor samples. Allele-specific PCR amplification (ARMS-PCR) was used to detect polymorphisms at P۵۳codon۷۲ in ۲۴۸ patients and ۱۸۹ controls. Data were analyzed using χ۲ test or Fisher's exact and a p value of Results: We identified alterations in ۱۷.۶۹% of the exonic and intronic regions within the TP۵۳. We detected ۲۳ mutant and ۱۰۷ non-mutant samples. These mutations comprised ۲۱ single-base substitutions (۱۵-transitions and ۶-transversions), one deletion and one complex. Exon۶ was identified as a highly mutable region, with ten out of all ۲۳ (۴۳.۴۷%) observed mutations. We did not observe a significant association between polymorphism and mutation status (p >۰.۰۵). Also, the results did not show a significant correlation between P۵۳ mutational status and clinicopathological features. Distribution differences in the P۵۳codon۷۲ polymorphism between the cases and controls were not statistically significant (p >۰.۰۵). Conclusion: It might be concluded that P۵۳ mutational status and codon۷۲ 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.

Keywords:

breast cancer , p۵۳ , Codon۷۲ , Mutation , Azeri population