Division of Digestive and General Surgery, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Breast Surgery, Roswell Park Cancer Institute, Buffalo, New York.
Cancer Sci. 2019 Jan;110(1):6-15. doi: 10.1111/cas.13837. Epub 2018 Nov 27.
Next generation sequencing (NGS) has been an invaluable tool to put genomic sequencing into clinical practice. The incorporation of clinically relevant target sequences into NGS-based gene panel tests has generated practical diagnostic tools that enable individualized cancer-patient care. The clinical utility of gene panel testing includes investigation of the genetic basis for an individual's response to therapy, such as signaling pathways associated with a response to specific therapies, microsatellite instability and a hypermutated phenotype, and deficiency in the DNA double-strand break repair pathway. In this review, we describe the concept of precision cancer medicine using target sequences in gene panel tests as well as the importance of the control of sample quality in routine NGS-based genomic testing. We describe geographic and ethnic differences in cancer genomes, and discuss issues that need to be addressed in the future based on our experiences in Japan.
下一代测序（NGS）已经成为将基因组测序应用于临床实践的宝贵工具。将临床相关的靶序列纳入基于 NGS 的基因面板检测中，产生了实用的诊断工具，使个体化的癌症患者治疗成为可能。基因面板检测的临床应用包括调查个体对治疗反应的遗传基础，例如与特定治疗反应相关的信号通路、微卫星不稳定性和高度突变表型、以及 DNA 双链断裂修复途径的缺陷。在这篇综述中，我们描述了使用基因面板检测中的靶序列进行精准癌症医学的概念，以及控制常规基于 NGS 的基因组检测中样本质量的重要性。我们描述了癌症基因组中的地理和种族差异，并根据我们在日本的经验讨论了未来需要解决的问题。
