Correlations of and gene polymorphisms with breast cancer susceptibility and prognosis.

The aim of the present study was to investigate the correlation of enhancer of Zeste homolog 2 () and SET and MYND domain containing 3 () gene polymorphisms with breast cancer susceptibility and prognosis. A total of 712 patients with breast cancer and 783 healthy individuals were selected. Normal breast epithelial cells MCF-10A and breast cancer cells MCF-7, MDA-MB-231, T47D, and Bcap-37 were cultured. Polymerase chain reaction (PCR)-restriction fragment length polymorphism method was applied for genotyping. Reverse-transcription quantitative PCR (RT-qPCR) and Western blotting were used to examine and expression in breast cancer tissues and cells. The risk factors and prognostic factors for breast cancer were estimated. The C allele of rs12670401 (odds ratio (OR) =1.255, 95% confidence interval (95% CI): 1.085-1.452), T allele of rs6464926 (OR =1.240, 95% CI: 1.071-1.435), and three alleles of variable number of tandem repeats (VNTRs) (OR =1.305, 95% CI: 1.097-1.552) could increase susceptibility to breast cancer. Combined genotypes of rs12670401 (TC + CC) and rs6464926 (CT + TT) were associated with breast cancer susceptibility. Breast cancer tissues had higher and expression. rs12670401, rs6464926, age of menarche, and menopausal status were associated with breast cancer susceptibility. Patients with TT genotype of rs12670401 or with CC genotype of rs6464926 had higher overall survival (OS). rs12670401, rs6464926, and clinical staging were independent prognostic factors for breast cancer. VNTR polymorphism exhibited no association with susceptibility and prognosis. rs12670401 and rs6464926 polymorphisms, and expression, clinical staging, lymph node metastasis, human epidermal growth factor receptor-2 (HER2) status, and metastasis may be correlated with breast cancer susceptibility and prognosis.