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Figure 4 | Breast Cancer Research

Figure 4

From: Functional variants at the 21q22.3 locus involved in breast cancer progression identified by screening of genome-wide estrogen response elements

Figure 4

Associations between single-nucleotide polymorphisms in 21q22.3 in tumors displaying different estrogen receptor status and breast cancer progression. (A) The 21q22.3 single-nucleotide polymorphism (SNP) rs2251362 is significantly associated with both overall survival (OS) and disease-free survival (DFS) in all patients, especially in estrogen receptor–positive (ER+) patients, as detected in the validation stage. Hazard ratios (HRs) and 95% confidence intervals (95% CIs) were estimated based on the Cox proportional hazards model, considering the effects of the patients’ age, ER status and cancer stage. A total of 888 breast cancer patients (39 deaths and 33 patients with breast cancer recurrence during follow-up) were included. (B) The association between genetic polymorphism of the estrogen response element (ERE)–associated SNP in 21q22.3 (defined by rs1078272) and OS was significantly modified by the genotype of the SNP (that is, rs985694) of ESR1, the gene encoding the ER. (C) Association between genetic polymorphism of 21q22.3 detected by the haplotype pairs containing the two ERE-associated SNPs (rs2839494 and rs1078272) and OS of breast cancer patients with ER + tumors (left panel) or ER − tumors (right panel). The 779 patients (106 deaths and 126 patients with breast cancer recurrence during follow-up) in the initial screening were included in the analyses depicted in (B) and (C). HRs and 95% CIs were estimated based on the Cox proportional hazards model, considering the effects of the patients’ age and cancer stage.

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