Abstract
Mammalian target of rapamycin (mTOR) gene polymorphisms exert the major effects on the regulation of transcriptional activity and miRNA binding or splicing, which may be associated with cancer risk by affecting mTOR gene expression. However, inconsistent results have been previously reported. The present study evaluated the correlation between mTOR rs2536/rs2295080 polymorphisms and breast cancer risk. This case-control study was performed with 560 breast cancer patients and 583 healthy controls from the northwest of China. mTOR polymorphisms (rs2536 and rs2295080) were genotyped by Sequenom MassARRAY. We assessed the associations with odds ratios (ORs) and 95% confidence intervals (95% CIs). The association between mTOR rs2536 polymorphism and breast cancer risk was undetectable in our study (P > 0.05). In parallel, the significant effects were observed between mTOR rs2295080 polymorphism and breast cancer risk in the allele, codominant, and recessive models (P < 0.05). We detected no significant correlations between rs2536 polymorphism and the clinical parameters of breast cancer patients, while rs2295080 polymorphism was associated with lymph node (LN) metastasis. The Crs2536Grs2295080 haplotype was correlated with a significantly decreased risk of breast cancer (P < 0.05). In sum, the findings suggested that mTOR rs2295080 had a protective role on breast cancer susceptibility among Chinese population, while rs2536 polymorphism had no association with breast cancer risk.
Highlights
IntroductionMTOR plays a critical role in the phosphoinositide-3 kinase (PI3K)-AKT-Mammalian target of rapamycin (mTOR) pathway, in which mTOR regulates multifaceted molecular functions, including gene translation, cell growth, and death [1,2,3,4,5,6,7]. mTOR is frequently activated and functions as a predictive indicator for poor clinical outcome in human tumors, including lung, cervical, ovarian, and esophageal malignancies [8,9,10,11]. mTOR gene, located on chromosome 1q36.2, has 3,434 genetic polymorphisms [1, 2, 12]
Mammalian target of rapamycin gene polymorphisms exert the major effects on the regulation of transcriptional activity and miRNA binding or splicing, which may be associated with cancer risk by affecting mTOR gene expression
The present study evaluated the correlation between mTOR rs2536/rs2295080 polymorphisms and breast cancer risk
Summary
MTOR plays a critical role in the phosphoinositide-3 kinase (PI3K)-AKT-mTOR pathway, in which mTOR regulates multifaceted molecular functions, including gene translation, cell growth, and death [1,2,3,4,5,6,7]. mTOR is frequently activated and functions as a predictive indicator for poor clinical outcome in human tumors, including lung, cervical, ovarian, and esophageal malignancies [8,9,10,11]. mTOR gene, located on chromosome 1q36.2, has 3,434 genetic polymorphisms [1, 2, 12]. In light of the ability of mTOR activation to influence a wide-range of cell functions, [20] it is likely that genetic variations of mTOR affects the risk level of breast cancer, and even the clinical outcome for breast cancer patients. This case-control study was performed to test the association between mTOR genetic polymorphisms and breast cancer risk, as well as clinical outcomes
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