摘要
目的基于下一代测序技术,检测和分析结直肠癌KRAS基因的突变情况,以及评估其应用于临床分子诊断中的可行性。方法应用Ion Proton半导体测序仪,检测108例结直肠癌患者的石蜡包埋组织样本的KRAS基因突变情况,并与作为金标准的一代测序检测结果进行对比。结果下一代测序检测结果与一代测序检测结果基本一致,符合率为94%,灵敏度高达100%。结论通过对108例临床样本的检测分析后,该下一代测序检测方法可用于检测结直肠癌KRAS基因突变情况。
Objective Based on next generation sequencing technology, to detect and analyze of KRAS gene mutations in colorectal cancer, and to assess the feasibility of its application in clinical molecular diagnosis. Methods KRAS gene mutation was detected in paraffin embedded tissue samples from 108 cases of colorectal cancer by Ion Proton semiconductor sequencer. The results were compared with the results from Sanger sequencing which is the gold standard. Results The results of the next generation sequencing were consistent with the results of gold standard, with the accuracy rate of 94% and sensitivity up to 100%.Conclusion Through the detection and analysis of 108 cases of clinical samples, this next generation sequencing method is valid for detection of KRAS gene mutation in colorectal cancer.
出处
《分子诊断与治疗杂志》
2016年第6期401-406,共6页
Journal of Molecular Diagnostics and Therapy
基金
广东省科技计划项目应用型专项资金(2015B020233009)
关键词
下一代测序
结直肠癌
KRAS
Next generation sequencing
Colorectal cancer
KRAS
