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Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification #MMPMID28146134
Kamps R; Brandão RD; van den Bosch BJ; Paulussen ADC; Xanthoulea S; Blok MJ; Romano A
Int J Mol Sci 2017[Feb]; 18 (2): ä PMID28146134show ga
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.