Correlation Between Variants Of ESR1 Gene At Different Sites And The Pathogenesis Of Cervical Squamous Cell Carcinoma

Objective: To study the mutation of ESR1 locus encoding estrogen receptor α(ERα)in cervical squamous cell carcinoma tissue,the junction of cancer and normal cervical tissue,and adjacent normal cervical tissue,to explore the correlation between ESR1 gene locus variation and the pathogenesis of cervical squamous cell carcinoma.Methods:1)The pathological diagnosis of cervical squamous cell carcinoma,the junction of cancer and normal cervical tissue,and the adjacent normal cervical tissue are qualified samples by hematoxylin-eosin staining;2)The expression of ER and PR in cancer tissues and their corresponding tissues at the junction of cancer and normal cervical tissues and adjacent normal tissues were determined by immunohistochemistry;3)Two-way gene sequencing was performed on eligible cancer tissues,the junctional tissues and adjacent normal tissues to detect the mutation of the ESR1 gene locus.Results:1)Immunohistochemical results showed that ER and PR were positively expressed in cervical squamous cell carcinoma tissue samples,tissue samples at the junction of cancer and normal cervical tissue,and adjacent normal tissue samples.2)Genetic testing results:(1)A total of 3 loci variants were detected in 9 samples,namely: rs2077647(c.30T>C),rs2228480(c.1782G>A),and rs4986934(c.729T>C);(2)Variation loci in group 1 samples The points are: rs2077647,rs4986934;the mutation sites in the samples of group 2 and group3 are rs2228480,rs4986934;(3)rs2228480(T594T)produces three genotypes: wild-type GG,homozygous mutant AA,heterozygous mutant GA;The rs2077647(S10S)locus produces two genotypes: wild-type TT,heterozygous mutant CT;the rs4986934(R243R)locus produces two genotypes: wild-type TT,homozygous mutant CC.Conclusion:1)There is no difference in the type and number of gene loci mutations in cervical squamous cell carcinoma tissue samples,tissue samples at the junction of cancer and normal cervical tissue,and adjacent normal tissue samples,suggesting that the ESR1 gene locus mutation is a genetic mutation.2)The genotype and allele distribution frequencies of rs2228480(t594t)locus and rs2077647(s10s)locus were not significantly different in cancer tissue samples and cervical intraepithelial lesion(SIL)tissue samples in parallel experiments in the same period.But,through cancer tissue,tissue at the junction of cancer and normal cervical tissue,and normal tissue adjacent to cancer the longitudinal comparative analysis and the differences between cancer and SIL,that suggests the allele variant T / C of rs2077647 may be related to the occurrence and development of individual cervical lesions;rs2228480 allele A may be involved in regulating the occurrence and development of cervical squamous cell carcinoma.3)There was no significant correlation between rs4986934 polymorphism and the occurrence and development of cervical squamous cell carcinoma.4)The rs1801132 locus may be a benign mutation in the progression of cervical squamous intraepithelial lesions.