Carcinogenesis, Teratogenesis & Mutagenesis ›› 2018, Vol. 30 ›› Issue (3): 209-213.doi: 10.3969/j.issn.1004-616x.2018.03.009

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Genetic variations in the mitotic checkpoint gene MAD1L1, and risk for breast cancer

YANG Shaoyi1, ZHANG Qingying1, WU Jundong2, LIN Qiuqiang3, WANG Ruifeng3, ZHENG Qingyuan4, CAI Fen2   

  1. 1. Department of Public Health and Preventive Medicine, Medical College of Shantou University, Shantou 515041;
    2. The Affiliated Tumor Hospital of Shantou University Medical College, Shantou 515041;
    3. Shantou Chenghai People's Hospital, Shantou 515899;
    4. Shantou Jinping Maternity & Child Healthcare Hospital, Shantou 515041, Guangdong, China
  • Received:2018-01-02 Revised:2018-03-14 Online:2018-05-30 Published:2018-05-30

Abstract: OBJECTIVE: To investigate associations between genotypic polymorphisms of the mitotic checkpoint gene,MAD1L1,and risk of breast cancer among women in the Chaoshan area. METHODS: This was a case-control study consisted of 191 new cases of breast cancer selected from the Tumor Hospital of SUMC between December,2015 and December,2017 and 225 healthy resident controls at the same period. TaqMan allelic discrimination was used to genotype the MAD1L1 locus rs1801368,and related information such as demographic characteristics,reproductive factors,smoking and drinking status,medical history and clinicopathological indexes for the cases were collected. RESULTS: The CC,CT and TT genotypes of rs1801368 accounted for 20.63%,42.86%,36.51% in the cases,and accounted for 30.14%,41.15%,28.71% in controls,genotype distribution showed no statistical significance between cases and controls,while logistic regression analysis showed that after adjusting the confounding factors such as age,age of menarche,menopause and so on,women carrying mutant homozygous TT genotype were more susceptible to breast cancer than those with wild homozygous CC genotype (OR=3.399,95% CI:1.288-8.973,P=0.013). CONCLUSION: Genetic variation of the SNP locus rs1801368 in mitotic checkpoint gene MAD1L1 was associated with breast cancer risk. Therefore,women who had the variant genotype would be susceptible to breast cancer.

Key words: breast cancer, spindle assembly checkpoint, MAD1L1, genetic susceptibility

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