Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
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DOI：
10.3390/ijms18020308
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发表时间：
2017-01-31
影响因子：
5.6
通讯作者：
Romano A
中科院分区：
文献类型：
--
作者：
Kamps R;Brandão RD;Bosch BJ;Paulussen AD;Xanthoulea S;Blok MJ;Romano A
下一代测序（NGS）技术在过去几十年中得到了扩展，在可靠性、测序化学、管道分析、数据解释和成本方面都有了显著的改进。这些进展使得NGS在今天的临床实践中的使用变得可行。本文综述了近年来NGS技术在肿瘤学领域的应用进展。一些临床应用进行审查，即，基于DNA测序的遗传性癌症综合征的突变检测，基于RNA测序的剪接变异体检测，DNA测序以鉴定风险调节剂，以及用于植入前遗传学诊断、癌症体细胞突变分析、药物遗传学和液体活组织检查的应用。结论性意见，临床局限性，影响和伦理考虑，涉及到不同的应用程序提供。
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.