Kamps Rick, Brandão Rita D, Bosch Bianca J van den, Paulussen Aimee D C, Xanthoulea Sofia, Blok Marinus J, Romano Andrea
Department of Clinical Genetics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands.
Department of Gynaecology and Obstetrics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands.
Int J Mol Sci. 2017 Jan 31;18(2):308. doi: 10.3390/ijms18020308.
Next-generation sequencing (NGS) technology has expanded in the last decades with significant improvements in the reliability, sequencing chemistry, pipeline analyses, data interpretation and costs. Such advances make the use of NGS feasible in clinical practice today. This review describes the recent technological developments in NGS applied to the field of oncology. A number of clinical applications are reviewed, i.e., mutation detection in inherited cancer syndromes based on DNA-sequencing, detection of spliceogenic variants based on RNA-sequencing, DNA-sequencing to identify risk modifiers and application for pre-implantation genetic diagnosis, cancer somatic mutation analysis, pharmacogenetics and liquid biopsy. Conclusive remarks, clinical limitations, implications and ethical considerations that relate to the different applications are provided.
在过去几十年中，下一代测序（NGS）技术不断发展，在可靠性、测序化学、流程分析、数据解读和成本方面都有显著改进。这些进展使得如今在临床实践中使用NGS成为可能。本综述描述了应用于肿瘤学领域的NGS的最新技术发展。文中回顾了一些临床应用，即基于DNA测序的遗传性癌症综合征中的突变检测、基于RNA测序的剪接变异体检测、用于识别风险修饰因子的DNA测序以及植入前基因诊断、癌症体细胞突变分析、药物遗传学和液体活检的应用。还提供了与不同应用相关的结论性评论、临床局限性、影响和伦理考量。
