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- W2922868757 abstract "Abstract ESR1 encodes estrogen receptor alpha, which mediates estrogen action. Estrogen exposure is a central risk for breast cancer (BC); therefore, ESR1 variants are likely to affect BC susceptibility. We evaluated the association of ESR1 rs3020314 and rs1514348 with BC among Sudanese women, and correlated genotype with BC risk factors and clinicopathologic features. A total of 144 women were recruited in this case-control study (71 women with BC, and 73 healthy controls). ESR1 rs3020314 and rs1643821 –a proxy SNP for rs1514348–were genotyped using PCR-RFLP. Genotype frequencies differed significantly between cases and controls. For rs3020314, women carrying the heterozygous genotype CT had increased BC risk (OR: 2.67; 95%CI: 1.19–6.01; p = 0.02). Conversely, for rs1643821 women with the heterozygous genotype CT showed a decreased BC risk (OR: 0.41, 95%CI: 0.19–0.89; p = 0.02). Allele frequencies were not different between the two groups. In the subgroups of BMI ≥ 25 kg/m2 likewise postmenopausal women, patients carrying the rs3020314 genotype CT had 7-times and 6-times BC risk than controls, respectively. There was no association between genotype and clinicopathologic features. Our data suggest that ESR1 rs3020314 and rs1514348 might modify BC risk in Sudanese women. However, these findings need further testing in a larger number of patients." @default.
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- W2922868757 date "2019-06-01" @default.
- W2922868757 modified "2023-09-27" @default.
- W2922868757 title "Association of ESR1 polymorphisms (rs3020314 and rs1514348) with breast cancer in Sudanese women. A pilot study" @default.
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- W2922868757 doi "https://doi.org/10.1016/j.genrep.2019.100396" @default.
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