Article
A non-synonymous polymorphism Thr115Met in the EpCAM gene is associated with an increased risk of breast cancer in Chinese population.
Breast cancer research and treatment - 1 Apr 2011
Jiang Lan, Zhang Chun, Li Yinyan, Yu Xiao, Zheng Jian, Zou Ping, Li Yuting, Bin Xiaonong, Lu Jiachun, Zhou Yifeng
Abstract excerpt
As a tumor-associated antigen and a surface marker of breast cancer stem cells (BCSCs), epithelial cell adhesion molecule (EpCAM) plays an important role in not only cell adhesion, morphogenesis, metastases but also carcinogenesis. A non-synonymous C/T polymorphism (rs1126497) in exon3 of EpCAM causes a transition of 115 amino acid from Met to Thr. Another polymorphism (A/G, rs1421) in the 3'UTR causes loss of...
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