Tu Michael, Chia David, Wei Fang, Wong David
School of Dentistry, University of California, Los Angeles, CA, USA.
Department of Pathology, UCLA David Geffen School of Medicine at UCLA, Los Angeles, California, USA.
Analyst. 2016 Jan 21;141(2):393-402. doi: 10.1039/c5an01863c.
Oncogenic activations by mutations in key cancer genes such as EGFR and KRAS are frequently associated with human cancers. Molecular targeting of specific oncogenic mutations in human cancer is a major therapeutic inroad for anti-cancer drug therapy. In addition, progressive developments of oncogene mutations lead to drug resistance. Therefore, the ability to detect and continuously monitor key actionable oncogenic mutations is important to guide the use of targeted molecular therapies to improve long-term clinical outcomes in cancer patients. Current oncogenic mutation detection is based on direct sampling of cancer tissue by surgical resection or biopsy. Oncogenic mutations were recently shown to be detectable in circulating bodily fluids of cancer patients. This field of investigation, termed liquid biopsy, permits a less invasive means of assessing the oncogenic mutation profile of a patient. This paper will review the analytical strategies used to assess oncogenic mutations from biofluid samples. Clinical applications will also be discussed.
关键癌症基因（如表皮生长因子受体（EGFR）和 Kirsten 大鼠肉瘤病毒癌基因（KRAS））的突变所导致的致癌激活与人类癌症密切相关。针对人类癌症中特定致癌突变的分子靶向治疗是抗癌药物治疗的主要切入点。此外，致癌基因突变的不断发展会导致耐药性。因此，检测和持续监测关键的可操作致癌突变的能力对于指导使用靶向分子疗法以改善癌症患者的长期临床疗效至关重要。目前，致癌突变检测基于通过手术切除或活检对癌组织进行直接采样。最近研究表明，在癌症患者的循环体液中可检测到致癌突变。这一研究领域被称为液体活检，它提供了一种侵入性较小的方法来评估患者的致癌突变谱。本文将综述用于评估生物流体样本中致癌突变的分析策略。还将讨论其临床应用。
