ESR2 gene variants (rs1256049, rs4986938, and rs1256030) and their association with breast cancer risk

Variants of the estrogen receptor b ( ) gene have been associated with different types of cancer. However, these associations have been inconsistent. We genotyped the variants (rs1256049, rs4986938, and rs1256030) in breast cancer (BC) patients and in healthy women. The variants rs1256049 and rs4986938 in the gene were not associated with risk susceptibility in BC patients. However, the rs1256030 variant had an association as a risk factor for BC patients when compared with controls and BC patients for the genotype (odds ratio (OR) 1.86, 95% confidence intervals (CI) [1.05-3.28], = 0.042). In addition, differences were observed in patients and controls carrying the genotype under 50 years of age (OR 1.85, 95% CI [1.05-3.27], = 0.043). Thus, evident differences showed the rs1256030 variant in patients with , TC, and TC genotypes with: (1) Stage IV (OR 1.60, 95% CI [1.06-2.54], = 0.033), and (2) Luminal A (OR 1.60, 95% CI [0.47-0.21], = 0.041), as well as in BC carriers of the genotype with indices of cellular proliferative (Ki-67) elevated (>20%) and overweight (OR 1.67, 95% CI [0.85-3.28], = 0.041), respectively. In BC HER2 with lymph node metastasis, the genotype was a protective factor (OR 0.38, 95% CI [0.18-0.78], = 0.005). The identification of haplotypes included two common as risk factors (OR 3.1, 95% CI [1.31-7.72], = 0.011) and as a protective factor (OR 0.7, 95% CI [0.60-0.97], = 0.034). The haplogenotype was a risk factor (OR 2.5, 95% CI [1.28-5.0], = 0.008). The variant rs1256030 ( ) of the gene and haplotype were associated with susceptibility to BC as risk factors in this sample from the Mexican population.