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目的:探究三阴性乳腺癌患者BRCA1和BRCA2基因突变检测的临床意义及预后因素分析。方法:研究对象选取为2003年1月至2015年12月之间的三阴性乳腺癌156例,所有患者均通过PCR法和DNA序列测定检验BRCA1和BRCA2基因突变情况,分析乳腺癌患者BRCA1和BRCA2基因突变特点。应用LogR ank检验对BRC A1和/或BRC A2基因突变的三阴性乳腺癌患者的各项指标如年龄、ECOG状态、临床分期、淋巴结阳性数、月经状态和给药方式进行单因素分析。应用Cox风险比例回归模型分析患者年龄、ECOG状态、临床分期、淋巴结阳性数、肿瘤大小、月经状态和给药方式等多因素分析。结果:三阴乳腺癌患者发生基因突变21例,总体发生率13.46%,BRCA1突变15例,BRCA2突变6例。Log-Rank检验结果显示,发病年龄越大,ECOG评分越高,临床分期越晚,淋巴结阳性数越多,预后越差(P<0.05),而发病时月经状态和给药方式与预后无关。COX风险比例回归模型显示,肿瘤大小(相对危险度,3.163;95%CI:1.455~9.287;P<0.05)和淋巴结转移数(相对危险度,1.859;95%CI:1.254~6.875;P<0.05)是BRCA基因突变三阴性乳腺癌独立的预后因素。结论:BRCA1和BRCA2基因突变可能与乳腺癌尤其是三阴乳腺癌可能有着密切的相关性,发病年龄、ECOG评分,临床分期和淋巴结阳性数及肿瘤大小与BRCA基因突变的三阴乳腺癌预后有关。
Objective: To investigate the clinical significance and prognostic factors of BRCA1 and BRCA2 gene mutations in triple negative breast cancer patients. Methods: The subjects were selected from January 2003 to December 2015 triple negative breast cancer 156 cases, all patients by PCR and DNA sequencing to test BRCA1 and BRCA2 gene mutations, analysis of breast cancer patients BRCA1 and BRCA2 Gene mutation characteristics. The LogR ank test was used to perform univariate analysis of various indicators of triple negative breast cancer patients with BRC A1 and / or BRC A2 mutations, such as age, ECOG status, clinical stage, lymph node positive numbers, menstrual status, and mode of administration. Cox risk proportional regression model was used to analyze the age, ECOG status, clinical stage, lymph node positive number, tumor size, menstrual status and administration mode. Results: There were 21 cases of gene mutations in the patients with triple negative breast cancer, the overall incidence was 13.46%. There were 15 cases of BRCA1 mutation and 6 cases of BRCA2 mutation. Log-Rank test showed that the older the onset age, the higher the ECOG score, the later the clinical stage, the more positive lymph nodes, the worse the prognosis (P <0.05). However, the menstrual status and the mode of administration did not correlate with the prognosis. COX risk proportional regression model showed that tumor size (relative risk, 3.163; 95% CI: 1.455-9.287; P <0.05) and lymph node metastasis (relative risk, 1.859; 95% CI: 1.254-6.875; ) Is an independent prognostic factor for BRCA triple-negative breast cancer. CONCLUSION: The mutations of BRCA1 and BRCA2 may be closely related to breast cancer, especially triple-negative breast cancer. The age of onset, ECOG score, clinical stage, lymph node positive number and tumor size are related to the prognosis of triple negative breast cancer with BRCA mutation .