Correlation Between Sporadic Breast Cancer And TP53 Gene Mutation In Inner Mongolia

Objective:Tumor suppressor gene P53(TP53)is not only a suppressor factor of human tumor cells,but also a DNA-binding transcription factor,which mainly plays a role in regulating cell cycle,controlling cell apoptosis,maintaining genomic DNA stability and inhibiting tumor neovascularization.It is the gene with the highest correlation with the occurrence and development of human malignant tumor,and also the most common mutation gene in breast cancer so far so good.At present,the research on the mechanism of TP53 gene mutation and the occurrence and development of breast cancer is still controversial,and there is still a lack of research on the relationship between different ethnic groups in the same region and the distribution of TP53 gene polymorphism.In this study,gene polymorphisms at R175 H and R248 W of TP53 gene were detected and analyzed to compare whether there were differences in their distribution among Mongolian and Han patients with sporadic breast cancer in Inner Mongolia,and to explore the correlation between the gene polymorphisms at the above loci and clinicopathological features of sporadic breast cancer in Inner Mongolia.Methods:From February 2022 to October 2022,a total of 62 female patients(20 cases of Mongolian and 42 cases of Han)who were diagnosed with sporadic breast cancer through pathological diagnosis were selected as case group.A total of 62 female patients(20 cases of Mongolian and 42 cases of Han)with similar age with the control group were selected as the control group.On initial admission,2ml peripheral circulating venous blood was extracted from EDTA anticoagulant vacuum collection vessel on an empty stomach to extract DNA.After PCR,direct sequencing was used to detect gene polymorphism at TP53 gene R175 H and R248 W.Hardy-Weinberg equilibrium law was tested for genotype frequency at each site.Chi-square test and Fisher’s exact probability test were performed.Binary Logistic regression analysis was used to evaluate the relationship between the gene types and alleles of TP53 gene R175H and R248 W and risk factors associated with breast cancer.Results:(1)Three genotypes were detected at TP53 R175H: GG,GA and AA.There was no significant difference in the distribution of all genotypes and alleles in case group,control group,Mongolian and Han breast cancer patients(P > 0.05).(2)The relationship between the distribution of R175 H genotype and the incidence of breast cancer: the wild homozygous GG genotype was used as the reference between the case group and the control group.There was no significant difference in the distribution of mutant heterozygous GA,mutant homozygous AA and GA+AA genotype(GA: OR=0.417,95%CI=0.167-1.041,P > 0.05;AA: OR=0.590,95%CI=0.188-1.851,P > 0.05;GA+AA:OR=0.472,95%CI=0.218-1.022,P > 0.05);There was no significant difference between allele A and G(OR=0.562,95%CI=0.304-1.040,P > 0.05).(3)There were statistically significant differences between R175 H site polymorphism and the expression of immunohistochemical index Cerb B2,clinical stage and different molecular types in pathological examination of breast cancer(P < 0.05).There was no significant difference in age,tumor diameter,lymph node metastasis,histological grade and other indicators of immunohistochemistry(P > 0.05).The relationship between the number of cases of Luminal A,Luminal B,Her-2 overexpression and Basal-like breast cancer and the distribution of different R175 H genotypes was compared in pairs.The results showed that there were statistically significant differences in the distribution of three genotypes of R175 H in patients with Basal-like breast cancer compared with those with Her-2 overexpression and those with Basal-like breast cancer compared with those with Lumianl B breast cancer(P <0.008).(4)In this study,only one genotype was detected at the R248 W site: wild homozygous GG type.It was considered that the R248 W site of TP53 gene had no significant correlation with sporadic breast cancer in Inner Mongolia.Conclusion:(1)There is no correlation between TP53 R175 H and R248 W polymorphisms and sporadic breast cancer patients in Inner Mongolia.(2)There was no statistical significance in the distribution of TP53 R175 H and R248 W polymorphisms and alleles between Mongolian and Han in Inner Mongolia.(3)TP53 R175 H gene polymorphism is related to the molecular typing of breast cancer,the expression of immunohistochemical index Cerb B2 and clinical stage,suggesting that R175 H mutation may be related to the prognosis of breast cancer;Compared with Her-2overexpression breast cancer patients with Basal-like breast cancer and Luminal B breast cancer patients with Basal-like breast cancer,the distribution of R175 H locus gene polymorphism was statistically significant,suggesting that R175 H locus could provide clues and research directions for follow-up targeted treatment of breast cancer.