变性高效液相色谱分析技术对乳腺癌易感基因突变位点检测的敏感性和特异性

目的:探讨变性高效液相色谱分析技术对乳腺癌易感基因突变位点检测的敏感性和特异性。方法:收集202例诊断为原发性乳腺癌女性患者,同时采用PCR/DNA测序法和变性高效液相色谱分析技术检测BRCA1基因突变,以PCR/DNA测序法作为"金标准",评估变性高效液相色谱分析技术的敏感性和特异性。结果:202例乳腺癌标本中,PCR/DNA测序法发现BRCA1基因突变例数为76例,变性高效液相色谱分析技术结果,阳性73例,敏感性为96.1%;PCR/DNA检测结果为阴性126例,采用变性高效液相色谱分析技术,阴性120例,特异性为95.2%。两种检测方法敏感性和特异性无统计学差异(P=0.265,P=0.226)。结论:采用变性高效液相色谱分析技术检测乳腺癌易感基因BRCA1具有较高的敏感性和特异性,与传统检测方法相比,变性高效液相色谱分析技术具有较多的优点,值得推广。

The sensitivity and specificity of DHPLC detection for mutational sites of susceptible genes of breast cancer

Objective:To explore the sensitivity and specificity of denaturing high-performance liquid chromatography(DHPLC) detection for mutational sites of susceptible genes of breast cancer. Methods:A total of 202 patients diagnosed as primary breast cancer were collected,then PCR/DNA gene sequencing and DHPLC were used to detect BRCA1 gene mutation.Taking PCR/DNA gene sequencing as gold standard to evaluate the sensitivity and specificity of DHPLC. Results:Among 202 breast cancer samples,76 cases with BRCA1 gene mutation were found by PCR/DNA gene sequencing,73 positive cases were were found by DHPLC,the sensitivity was 96.1%.A total of 126 negative cases were found by PCR/DNA,while 120 negative cases were found by DHPLC,the specificity was 95.2%.There was no statistically significant difference in sensitivity and specificity between the two methods(P=0.265,P=0.226). Conclusion:DHPLC has high sensitivity and specificity for detecting breast cancer susceptibility gene-BRCA1,compared with routine method,which has multiple advantages,and it is worthy to be popularized.