The rs700519 Polymorphism and Breast Cancer Susceptibility in China: A Case-Control Study and Updated Meta-Analysis.

Breast cancer (BC), the most prevalent cancer in women, has been associated with several genetic factors, including the rs700519 polymorphism; however, the conclusions have not been consistent. This case-control study and meta-analysis aimed to further assess the relationship between the rs700519 polymorphism and BC susceptibility. We conducted a case-control study to assess the relationship of the rs700519 polymorphism with the risk and prognosis of BC. Subsequently, we performed a meta-analysis of the case-control studies. In the case-control study, we found a significant negative relationship between the rs700519 AA genotype and risk ( = 7.503,  < 0.01) and disease-free survival rates (hazard rate = 0.400, 95% confidence interval [CI] = 0.181-0.883,  < 0.01) of patients with BC, especially in postmenopausal hormone receptor-positive (HR) patients. Nine case-control studies were included in the meta-analysis. The rs700519 polymorphism was significantly associated with BC susceptibility in the dominant (odds ratio [OR] = 0.95, 95% CI = 0.90-1.00,  = 0.05) and allelic models (OR = 0.84, 95% CI = 0.75-0.93,  < 0.01), but not in the recessive model. Sensitivity analysis revealed that the study results were stable, whereas the funnel plot revealed some publication bias. The rs700519 polymorphism is related to breast tumorigenesis.