Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.
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.
Department of Clinical Genetics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands. rick.kamps@maastrichtuniversity.nl.
Rick
R
Kamps
Department of Clinical Genetics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands. rita.brandao@maastrichtuniversity.nl.
Rita D
RD
Brandão
Department of Clinical Genetics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands. bianca.vanden.bosch@mumc.nl.
Bianca J van den
BJ
Bosch
Department of Clinical Genetics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands. aimee.paulussen@mumc.nl.
Aimee D C
AD
Paulussen
Department of Gynaecology and Obstetrics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands. sofia.xanthoulea@maastrichtuniversity.nl.
Sofia
S
Xanthoulea
Department of Clinical Genetics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands. rien.blok@mumc.nl.
Marinus J
MJ
Blok
Department of Gynaecology and Obstetrics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands. a.romano@maastrichtuniversity.nl.
Andrea
A
Romano
D014408:Biomarkers, Tumor; D002986:Clinical Trials as Topic; D019295:Computational Biology; D059472:Exome; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D023281:Genomics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000517:prevention & control; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics; D010597:Pharmacogenetics; D011379:Prognosis; D015203:Reproducibility of Results
D014408:Biomarkers, Tumor
cancer somatic mutation; diagnostics; gene-panel; genetic modifiers; inherited cancer syndrome; next-generation sequencing; theranostics; whole-exome-sequencing; whole-genome-sequencing