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目的探讨乳腺癌患者肿瘤坏死因子-α(TNF-α)基因突变率及其与乳腺癌临床特征的相关性。方法纳入2014年1月至12月住院的病理确诊的乳腺癌患者128例为乳腺癌组,同时纳入健康人群50例为对照组。通过DNA测序法检测两组对象TNF-α基因rs1800629、rs361525位点的基因型分布及突变率;采用免疫组化法检测乳腺癌组织TNF-α表达水平,采用酶联免疫吸附法测定乳腺癌患者血清TNF-α水平,分析乳腺癌患者TNF-α基因突变情况及其和乳腺癌患者临床分期、肿瘤大小、脏器淋巴结转移及复发的关系。结果乳腺癌患者rs1800629位点突变率为18.7%,对照组为20.0%;乳腺癌患者rs361525位点突变率为2.3%,对照组为4.0%;乳腺癌组rs1800629位点、rs361525位点基因型分布和对照组差异无统计学意义(P均>0.05)。突变基因型(杂合突变型G/A、纯合突变型A/A)患者癌组织TNF-α表达水平及血清TNF-α水平与野生型(G/G)患者相比,差异无统计学意义(P均>0.05)。乳腺癌患者TNF-α基因rs1800629位点、rs361525位点突变和乳腺癌腋窝淋巴结转移、脏器转移、肿瘤复发、肿瘤大小、临床分期均无相关性(P均>0.05)。结论 TNF-α基因rs1800629、rs361525位点突变和乳腺癌的发病无相关性,不推荐作为筛选乳腺癌基因的候选指标。
Objective To investigate the mutation rate of tumor necrosis factor-α (TNF-α) gene in breast cancer patients and its correlation with the clinical features of breast cancer. Methods One hundred and eighty-eight breast cancer patients admitted to hospital from January 2014 to December 2014 were breast cancer patients and 50 healthy controls. The genotype distribution and mutation rate of TNF-α gene rs1800629, rs361525 loci were detected by DNA sequencing. The expression of TNF-α in breast cancer tissues was detected by immunohistochemistry and the levels of TNF-α in breast cancer tissues were determined by enzyme-linked immunosorbent assay The level of serum TNF-α was analyzed. The mutation of TNF-α gene in breast cancer patients was analyzed, and its relationship with clinical stage, tumor size, lymph node metastasis and recurrence of breast cancer were analyzed. Results The mutation rate of rs1800629 was 18.7% in breast cancer patients and 20.0% in control subjects. The mutation rate of rs361525 in breast cancer patients was 2.3% and 4.0% in control subjects. The rs1800629 locus and rs361525 locus in breast cancer patients There was no significant difference between the two groups (P> 0.05). The level of TNF-α and the level of serum TNF-α in cancer tissues of patients with mutant genotypes (heterozygous mutant G / A and homozygous mutant A / A) were not significantly different from those of wild type (G / G) patients Significance (P> 0.05). The mutation of rs1800629 and rs361525 of TNF-α gene in breast cancer patients was not associated with axillary lymph node metastasis, organ metastasis, tumor recurrence, tumor size and clinical stage in breast cancer (all P> 0.05). Conclusion There is no correlation between TNF-α gene rs1800629, rs361525 mutation and the incidence of breast cancer, and it is not recommended as a candidate index for screening breast cancer genes.