乳腺癌患者BRCA1/2突变特点与临床病理特征相关性

Correlation between BRCA1/2 Mutation and Clinicopathological Features in Breast Cancer Patients

目的探讨乳腺癌患者乳腺癌易感基因1(BRCA1)和BRCA2突变特点与临床病理特征的相关性。方法选择的乳腺癌患者140例作为研究对象,取所有患者的癌组织样本与癌旁组织标本,提取组织样本的DNA,PCR扩增检测BRCA1和BRCA2突变情况,调查患者的临床病理特征并进行相关性分析。结果乳腺癌组织的BRCA1和BRCA2突变率分别为13.6%和14.3%,癌旁组织分别为0.7%和1.4%,对比差异有统计学意义(P<0.05)。在140例癌组织中,不同临床分期、分化程度与淋巴结转移组织中的BRCA1、BRCA2突变率对比差异有统计学意义(P<0.05);Spearman相关分析显示乳腺癌组织的BRCA1与BRCA2突变呈现显著正相关性(γ=0.672,P=0.000);Logistic回归分析显示乳腺癌的临床分期、分化程度与淋巴结转移都为影响BRCA1、BRCA2突变的独立危险因素(P<0.05)。结论乳腺癌患者BRCA1和BRCA2突变比较常见,与临床分期、组织学分化与淋巴结转移等病理学特征显著相关。

Objective To investigate the correlation between the characteristics of Breast Cancer Susceptible Gene L(BRCA1)and BRCA2 mutation and the clinicopathological features of breast cancer patients.Methods 140 cases of breast cancer patients were selected as the subjects.All the cancer tissue samples and paracancerous tissue samples were taken from all the patients,The DNA were extracted from the tissue samples and were used the PCR for amplification BRCA1 and BRCA2 mutations.The clinicopathological features of the patients were investigated and the correlation analysis.Results The mutation rates of BRCA1 and BRCA2 in breast cancer tissues were 13.6%and 14.3%respectively,and were 0.7%and 1.4%in the paracancerous tissue samples respectively,and compared the difference were statistically significantly(P<0.05).In the 140 cases of cancer tissue,the difference of BRCA1 and BRCA2 mutation rates in different clinical stages,differentiation and lymph node metastasis compared were statistically significant(P<0.05);Spearman correlation analysis showed that the BRCA1 and BRCA2 mutations in breast cancer showed significant positive correlation(γ=0.672,P=0.000);Logistic regression analysis showed the staging,differentiation and lymph node metastasis of breast cancer were independent risk factors for BRCA1 and BRCA2 mutations(P<0.05).Conclusion BRCA1 and BRCA2 mutations are common in breast cancer patients,which are significantly correlated with clinical stage,histological differentiation and lymph node metastasis.