Research Papers:

Impacts of the mTOR gene polymorphisms rs2536 and rs2295080 on breast cancer risk in the Chinese population

Yang Zhao, Yan Diao, XiJing Wang, Shuai Lin, Meng Wang, HuaFeng Kang, PengTao Yang, Cong Dai, XingHan Liu, Kang Liu, ShanLi Li, YuYao Zhu and ZhiJun Dai _

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Oncotarget. 2016; 7:58174-58180. https://doi.org/10.18632/oncotarget.11272

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Yang Zhao1,*, Yan Diao1,*, XiJing Wang1, Shuai Lin1, Meng Wang1, HuaFeng Kang1, PengTao Yang1, Cong Dai1, XingHan Liu1, Kang Liu1, ShanLi Li1, YuYao Zhu1, ZhiJun Dai1

1Department of Oncology, the Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, Shaanxi Province, PR China

*Co-first authors, these authors contributed equally to this work

Correspondence to:

ZhiJun Dai, email: [email protected]

Keywords: mTOR, single nucleotide polymorphism, breast cancer, risk

Received: June 06, 2016     Accepted: July 29, 2016     Published: August 12, 2016


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.

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