الفهرس 
INTRODUCTIONOnly 14 pages are availabe for public view
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Abstract
BC is considered to be the second most frequent worldwide cancer just beyond lung cancer. It is also a major cause of cancer related deaths throughout the world. Regarding Egypt, BC accounts for about 38% of all tumors and the 2nd most common cause of cancer related mortality.
Many factors contribute to the occurrence of BC including genetic and environmental factors. BC symptoms differ from one patient to another; however, the most prevalent symptom is the presence of breast mass.
BC diagnosis based on detailed history taking ,physical examination ,diagnostic imaging such as mammogram ,US,MRI and the pathological examination which is the conclusive way of diagnosis including FNAC,CNB and excisional biopsy.
Estrogen is assumed to be incriminated in the evolution of BC through its binding to ER. This contributes to increase cellular turnover within the breast tissue causing replication errors and disrupting normal cellular apoptosis. Also, accumulation of estrogen metabolites can damage DNA resulting in point mutation.
The ESR1gene is positioned on chromosome 6 which encodes ERα and is associated with BC initiation and development. The snps in ESR1 gene contributes to changes in its activity resulting in BC occurrence. The ESR1 snp rs2046210 has been reported to be associated with BC among Vietnamese, Chinese, Asian and Caucasian populations.
In the current study, we aimed to investigate the association between ESR1 snp rs2046210 and BC in a sample of Egyptian females.
The genotyping of snp rs2046210 was done using RT-PCR (Taqman probes-5’nuclease assay).
A total of fifty subjects were recruited in the study. Thirty newly diagnosed BC female patients and twenty females with benign breast mass as controls.
Each patient was subjected to full history taking ,routine lab investigations(CBC ,ALT ,AST ,renal function tests),complete clinical examination , mammography ,US ,metastatic work up ,FNAC or CNB for pathological examination followed by histopathological examination after mastectomy. IHC was done on tumor biopsies including ER,PR and HER2.
Concerning, the genotype and allele frequencies for the ESR1 gene rs2046210, BC patients had a greater frequency of A/A genotype and A allele than controls reaching a statistically significant difference between both groups. The A allele and A/A genotype odds ratios point to a substantial link between the A allele and BC occurrence. The frequency of G/G and G/A genotypes, on the other hand, was higher among controls. The G allele was also found to be more common among controls.
The outcomes of the current study were consistent with those of previous studies on Vietnamese, Chinese, Asian, and Caucasian populations. The results of a study conducted among Iranian Azari-Turkish women, on the other hand, contradict the findings of this study.