Quantitative analysis of p53 substitution mutation and breast cancer; An informative study in Iranian population

Document Type : Research Paper

Author

Department of Biology, Faculty of Basic Sciences, University of Isfahan, Isfahan, Iran

Abstract

Genetic factors including genetic variations in important genes may influence breast cancer susceptibility. One of important gene variations is p53 codon 72 which might impact risk of breast cancer. There are three case-control genetic association studies regard to the relation of this polymorphism with breast cancer risk in Iranian females, but the outcomes are indecisive. So, a meta-analysis was made in Iranian population in this regard. The eligible studies were found using search in appropriate databases. So, the extracted information from comprised studies was examined by Open Meta analyst program. The analyzed data displayed that there is no substantial correlation of p53 codon 72 substitution with risk of breast cancer in CC vs. GG (OR= 0.844, 95%CI= 0.244-2.916, p= 0.789) and GC vs. GG (OR= 1.215, 95%CI= 0.880-1.676, p= 0.237) models in Iran. Regarding to the outcomes, the aforementioned polymorphism is not a molecular risk factor for breast cancer in Iranian population.

Graphical Abstract

Quantitative analysis of p53 substitution mutation and breast cancer; An informative study in Iranian population

Highlights

  • Genetic variations in tumor suppressor genes such as p53 protein could impact breast cancer.
  • One of main gene variations is p53 codon 72 which could alter the risk of breast tumors.
  • The codon 73 in p53 is not a risk factor for breast cancer in Iranian population.

Keywords

Main Subjects


Feng Y, Spezia M, Huang S, Yuan C, Zeng Z, Zhang L, Ji X, Liu W, Huang B, Luo W, Liu B. Breast cancer development and progression: Risk factors, cancer stem cells, signaling pathways, genomics, and molecular pathogenesis. Gen Dis 2018; 5(2): 77-106.
Maajani K, Jalali A, Alipour S, Khodadost M, Tohidinik HR, Yazdani K. The global and regional survival rate of women with breast cancer: a systematic review and meta-analysis. Clin Breast Cancer 2019; 19(3): 165-177.
Muller PA, Vousden KH. p53 mutations in cancer. Nat Cell Biol 2013; 15(1): 2-8.
Yeh YT, Yeh H, Su SH, Lin JS, Lee KJ, Shyu HW, Chen ZF, Huang SY, Su SJ. Phenethyl isothiocyanate induces DNA damage-associated G2/M arrest and subsequent apoptosis in oral cancer cells with varying p53 mutations. Free Radic Biol Med 2014; 74: 1-3.
Ceccaldi R, Parmar K, Mouly E, Delord M, Kim JM, Regairaz M, Pla M, Vasquez N, Zhang QS, Pondarre C, De Latour RP. Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. Cell Stem cell 2012; 11(1): 36-49.
Zeron-Medina J, Wang X, Repapi E, Campbell MR, Su D, Castro-Giner F, Davies B, Peterse EF, Sacilotto N, Walker GJ, Terzian T. A polymorphic p53 response element in KIT ligand influences cancer risk and has undergone natural selection. Cell 2013; 155(2): 410-422.
Tashiro H, Isacson C, Levine R, Kurman RJ, Cho KR, Hedrick L. p53 gene mutations are common in uterine serous carcinoma and occur early in their pathogenesis. Am J Pathol 1997; 150(1): 177-185.
Yang Z, Nie S, Zhu H, Wu X, Jia S, Luo Y, Tang W. Association of p53 Arg72Pro polymorphism with bladder cancer: a meta-analysis. Gene 2013; 512(2): 408-413.
Mantel, N., & Haenszel, W. Statistical aspects of the analysis of data from retrospective studies. J Natl Cancer Inst 1959; 22(4): 719-748.
DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986; 7(3): 177-188.
Khadang B, Fattahi MJ, Talei A, Dehaghani AS, Ghaderi A. Polymorphism of TP53 codon 72 showed no association with breast cancer in Iranian women. Cancer Genet Cytogen 2007; 173(1): 38-42.
Kazemi M, Salehi Z, Chakosari RJ. TP53 codon 72 polymorphism and breast cancer in northern Iran. Oncol Res 2009; 18(1): 25-30.
Hou J, Jiang Y, Tang W, Jia S. p53 codon 72 polymorphism and breast cancer risk: A meta-analysis. Exp Ther Med 2013; 5(5): 1397-1402.
Khrunin AV, Tarskaia LA, Spitsyn VA, Lylova OI, Bebyakova NA, Mikulich AI, Limborska SA. p53 polymorphisms in Russia and Belarus: correlation of the 2-1-1 haplotype frequency with longitude. Mol Genet Genomics. 2005; 272(6): 666-672.
Perry A, Wachowiak W, Downing A, Talbot R, Cavers S. Development of a single nucleotide polymorphism array for population genomic studies in four European pine species. Mol Ecol Resour 2020; 20(6): 1697-1705.
Rojas-Andrés BM, Padilla-García N, de Pedro M, López-González N, Delgado L, Albach DC, Castro M, Castro S, Loureiro J, Martínez-Ortega MM. Environmental differences are correlated with the distribution pattern of cytotypes in Veronica subsection Pentasepalae at a broad scale. Ann Bot 2020; 125(3): 471-484.
Surget S, Khoury MP, Bourdon JC. Uncovering the role of p53 splice variants in human malignancy: a clinical perspective. Onco Targets Ther 2013; 7: 57-68.
Honma M, Zhang LS, Hayashi M, Takeshita K, Nakagawa Y, Tanaka N, Sofuni T. Illegitimate recombination leading to allelic loss and unbalanced translocation in p53-mutated human lymphoblastoid cells. Mole Cell Biol 1997; 17(8): 4774-4781.
Tran H, Brunet A, Grenier JM, Datta SR, Fornace AJ, DiStefano PS, Chiang LW, Greenberg ME. DNA repair pathway stimulated by the forkhead transcription factor FOXO3a through the Gadd45 protein. Science 2002; 296(5567): 530-534.
Artandi SE, Chang S, Lee SL, Alson S, Gottlieb GJ, Chin L, DePinho RA. Telomere dysfunction promotes non-reciprocal translocations and epithelial cancers in mice. Nature 2000; 406(6796): 641-645.
Blasco MA. Telomeres and human disease: ageing, cancer and beyond. Nat Rev Genet 2005; 6(8): 611-622.
Wu PH, Westerberg PA, Kindmark A, Tivesten Å, Karlsson MK, Mellström D, Ohlsson C, Fellström B, Linde T, Ljunggren Ö. the association between Single nucleotide polymorphisms of Klotho Gene and Mortality in elderly Men: the MroS Sweden Study. Sci Rep 2020; 10(1): 1-8.