摘要
以二代测序和数字PCR为代表的基因检测技术的进步，为乳腺癌循环肿瘤DNA相关研究奠定了基础。2014年，美国病理学会颁布了二代测序临床检测实验室标准，为规范基因诊断提供了参考蓝本。2015年，欧洲人类遗传学会明确指出在依据指南建立研究并获得共识以前，二代测序技术尚不能指导临床实践。尽管现有研究结果显示，循环肿瘤DNA在乳腺癌病情监测、预后分析及个体化用药指导方面具有良好应用前景，但规范检测技术流程、严格判读标准的工作任重道远。
The progress of gene detection technologies represented by next generation sequencing （ NGS） and digital PCR laid a foundation for studies of circulating tumor DNA （ ctDNA） in breast cancer-In 2014, the NGS workgroup organized by the College of American Pathologists （ CAP ） published the College of American Pathologists′ Laboratory Standards for Next-Generation Sequencing Clinical Tests, which provides a blueprint for the standardization of gene testing- In 2015, the Guidelines for Diagnostic Next-generation Sequencing published by the European Society of Human Genetics claimed that NGS is unacceptable in clinical practice before studies guided by guidelines are approved- Although existing studies show the benefits of ctDNA testing in disease monitoring and prognosis analyzing, we have a ways to go to normalize the procedure and build strict detection criteria.
出处
《中华外科杂志》
CAS
CSCD
北大核心
2017年第2期95-98,共4页
Chinese Journal of Surgery
关键词
乳腺肿瘤
基因测定
Breast neoplasms
Gene testing
