The Association Between AXIN2 Gene Polymorphisms and Risk of Breast Cancer in Chinese Women

The protein AXIN2 is involved in the negative feedback regulation of the Wnt/β-catenin signaling pathway, and functions by promoting β-catenin degradation. mutations have been studied in various cancers. In this study, we genotyped three single nucleotide polymorphisms in the gene and investigated their association with the risk of breast cancer (BC) in the Chinese Han population. In a population of 415 BC patients and 528 controls the expression of was measured using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry and compared with the overall survival (OS) of BC patients analyzed through Oncomine and Kaplan-Meier plotter databases. Bioinformatics analysis demonstrated that mRNA levels were downregulated in BC patients; this in turn correlated with a poorer survival rate for BC patients. The polymorphisms rs11079571 and rs3923087, but not rs3923086, were associated with an increased risk of BC. The minor allele containing genotypes of polymorphism rs3923087 were positively associated with lymph node metastasis. A haplotype analysis demonstrated that the ATA haplotype was correlated with an increased risk of BC. In conclusion, the downregulation of AXIN2 is related to poorer OS for BC patients. Its polymorphisms rs11079571 and rs3923087, in addition, confer susceptibility to BC. These findings should be confirmed with larger studies that include more diverse ethnic populations.