A non-synonymous polymorphism Thr115Met in the EpCAM gene is associated with an increased risk of breast cancer in Chinese population

摘要: As a tumor-associated antigen and surface marker of breast cancer stem cells (BCSCs), epithelial cell adhesion molecule (EpCAM) plays an important role in not only adhesion, morphogenesis, metastases but also carcinogenesis. A non-synonymous C/T polymorphism (rs1126497) exon3 EpCAM causes transition 115 amino acid from Met to Thr. Another (A/G, rs1421) the 3′UTR loss has-miR-1183 binding. multiple independent case–control analysis was performed assess association between genotypes risk. We observed that variant genotype (rs1126497 CT, TT) associated with substantially increased risk cancer. Genotyping total 1643 individuals 1818 control subjects Eastern Southern Chinese populations showed rs1126497 CT + TT had odd ratio 1.40 (95% confidence interval, 1.16–1.57) for developing compared CC genotype. The allele T increases dose-dependent response manner (Ptrend < 0.001). Moreover, patients carrying genotype, SNP or carrier significantly early onset (P = 0.0023). However, no significant difference found frequencies at rs1421 A/G site cases controls. These findings suggest M115T may be genetic modifier