[摘要] 恶性肿瘤是严重威胁人类健康和社会发展的重大疾病，寻找科学的方法对其进行诊断、治疗和评估已成为近年来全球最重要的公共卫生问题之一。随着医疗行业的不断发展，传统的肿瘤筛查、防治和预后评估手段在近几年发展迅速。但是考虑到肿瘤异质性和患者个体化的特征，精准化的疾病筛查、诊断、治疗等医疗模式将成为未来医疗发展的趋势。肿瘤领域的基因变异检测是精准医疗中重要的组成部分，其应用可涉及早期筛查、复发监测、靶向用药指导、疗效及预后评价等众多环节，但在临床运用中仍存在诸多局限，有待更深入的研究来推动肿瘤精准医疗的发展。本文就近年来基因变异检测技术在恶性肿瘤精准医疗中的发展历程以及应用进展作一介绍。

[Abstract] Malignant cancer is a kind of fatal disease with severe threat to human health and social development, and seeking a scientific method for the proper diagnosis, treatment and assessment has become one of the most important public health problems in recent years. With the constant development in healthcare industry, traditional methods of tumor screening, prevention and prognosis assessment have made a rapid progress. However, owing to the characteristics of tumor heterogeneity and patient individuation, precision medicine mode in disease screening, diagnosis and treatment will become a general trend in future medical development. As an important part in precision medicine, gene variation detection in the field of tumors involves several aspects, including early screening, recurrence monitoring, guidance on use of targeted drugs and assessment of efficacy and prognosis etc; However, there are still many limitations in its clinical practice. Therefore, further research is needed to promote the development of tumor precision medicine. In this paper,the development history of gene variation detection and its application progress in precision medicine of malignant tumors are comprehensively discussed.

国家自然科学基金资助项目（No. 81573902）；浙江省中医药科学研究基金（No. 2015ZZ013）