Document Type: Original Article
Assistant Professor of Cellular & Molecular Biology, Department of Biology, Faculty of Science, Azarbaijan Shahid Madani University, Tabriz, Iran
Professor of Radiobiology, Department of Biology, Faculty of Natural Science, University of Tabriz, Tabriz, Iran
Associate Professor of Molecular Biology & Biochemistry, Department of Cellular and Molecular Biology, School of Biology, College of Sciences, University of Tehran, Tehran, Iran
Ph.D. candidate of Molecular Genetics, Department of Biology, Faculty of Natural Science, University of Tabriz, Tabriz, Iran
M.Sc. of Molecular Genetics, Department of Biology, Faculty of Natural Science, University of Tabriz, Tabriz, Iran
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 TP53 mutations. We also analyzed the role of the P53codon72 polymorphism (rs1042522) and its role in susceptibility to breast cancer.
Methods: Tumor and control samples were collected from 248 patients and 189 controls. TP53 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 P53codon72 in 248 patients and 189 controls. Data were analyzed using χ2 test or Fisher's exact and a p value of <0.05 was considered significant.
Results: We identified alterations in 17.69% of the exonic and intronic regions within the TP53. 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 (p>0.05). Also, the results did not show a significant correlation between P53 mutational status and clinicopathological features. Distribution differences in the P53codon72 polymorphism between the cases and controls were not statistically significant (p>0.05).
Conclusion: It might be concluded that P53 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.