Li Qiuyun, Wei Wei, Jiang Y I, Yang Huawei, Liu Jianlun
Department of Breast Surgery, The Affiliated Tumor Hospital of Guangxi Medical University, Guangxi 530021, P.R. China ; Department of General Surgery, No. 303 Hospital of PLA, Nanning, Guangxi 530021, P.R. China.
Department of Breast Surgery, The Affiliated Tumor Hospital of Guangxi Medical University, Guangxi 530021, P.R. China.
Oncol Lett. 2015 Apr;9(4):1807-1813. doi: 10.3892/ol.2015.2908. Epub 2015 Jan 27.
is a susceptibility gene that has a genetic predisposition for breast cancer. gene mutation is closely associated with familial hereditary breast cancer, but the gene mutation is rarely found in sporadic breast cancer. According to previous studies, decreased expression of was detected in certain types of sporadic breast cancer. Aberrant methylation of DNA promoter CpG islands is one of the mechanisms by which tumor suppressor gene expression and function is lost. The aim of the present study was to investigate gene expression, methylation status and clinical significance in sporadic types of breast cancer. Quantitative polymerase chain reaction (PCR) and bisulfite sequencing PCR were respectively used to detect expression differences of mRNA and methylation in the 49 cancerous and paired non-cancerous samples from patients with breast cancer. The associations of expression and methylation status with the clinicopathologic characteristics were analysed. mRNA expression levels in the 49 breast cancer tissues were lower than those in the paired non-cancerous tissues. There was a significant statistical difference (P=0.001). mRNA expression was not associated with the main clinicopathologic characteristics. Frequency of the promoter methylation in the breast cancerous tissues was significantly higher than that in the non-cancerous tissues (P=0.007); gene methylation status was negatively correlated with mRNA expression (P=0.029); and methylation exhibited no association with all clinicopathological features. DNA promoter hypermethylation may be the potential mechanism accounting for expression silence in part of sporadic types of breast cancer. Some patients with hypermethylated may display favorable clinicopathological status.
是一种对乳腺癌具有遗传易感性的易感基因。基因突变与家族遗传性乳腺癌密切相关,但在散发性乳腺癌中很少发现该基因突变。根据以往的研究,在某些类型的散发性乳腺癌中检测到其表达降低。DNA启动子CpG岛的异常甲基化是肿瘤抑制基因表达和功能丧失的机制之一。本研究的目的是探讨散发性乳腺癌中该基因的表达、甲基化状态及其临床意义。分别采用定量聚合酶链反应(PCR)和亚硫酸氢盐测序PCR检测49例乳腺癌患者癌组织及配对癌旁组织中该基因mRNA的表达差异和甲基化情况。分析该基因表达和甲基化状态与临床病理特征的相关性。49例乳腺癌组织中该基因mRNA表达水平低于配对的癌旁组织。差异有统计学意义(P=0.001)。该基因mRNA表达与主要临床病理特征无关。乳腺癌组织中该基因启动子甲基化频率显著高于癌旁组织(P=0.007);基因甲基化状态与mRNA表达呈负相关(P=0.029);且该基因甲基化与所有临床病理特征均无关联。DNA启动子高甲基化可能是部分散发性乳腺癌中该基因表达沉默的潜在机制。一些该基因甲基化的患者可能表现出良好的临床病理状态。