Shukuya Takehito, Takahashi Kazuhisa
Department of Respiratory Medicine, Juntendo University School of Medicine, Tokyo, Japan; Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.
Department of Respiratory Medicine, Juntendo University School of Medicine, Tokyo, Japan.
Respir Investig. 2019 May;57(3):201-206. doi: 10.1016/j.resinv.2018.12.005. Epub 2019 Jan 11.
Genetic testing for alterations in oncogenic driver genes has become essential and standard in the clinical practice of the treatment of lung cancer. Germline mutations potentially predisposing patients to lung cancer are rare; however, with the introduction of next-generation sequencing in the clinical practice of lung cancer, the identification of potentially predisposing germline abnormalities is becoming more common. In addition, liquid biopsy, which analyzes cell-free DNA in blood, increases the possibility of detecting these germline mutations. In this review, we summarize the germline mutations detected in lung cancer patients and briefly describe the future perspectives.
对致癌驱动基因改变进行基因检测已成为肺癌治疗临床实践中的重要标准。可能使患者易患肺癌的种系突变很少见；然而，随着下一代测序技术引入肺癌临床实践，潜在的易患种系异常的识别变得越来越普遍。此外，分析血液中游离DNA的液体活检增加了检测这些种系突变的可能性。在本综述中，我们总结了在肺癌患者中检测到的种系突变，并简要描述了未来展望。
