Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

被引：341

作者：

Kamps, Rick ^{[1
]}

Brandao, Rita D. ^{[1
]}

van den Bosch, Bianca J. ^{[1
]}

Paulussen, Aimee D. C. ^{[1
]}

Xanthoulea, Sofia ^{[2
]}

Blok, Marinus J. ^{[1
]}

Romano, Andrea ^{[2
]}

机构：

[1] Maastricht Univ, Med Ctr, Dept Clin Genet, GROW Sch Oncol & Dev Biol, NL-6229 HX Maastricht, Netherlands

[2] Maastricht Univ, Med Ctr, Dept Obstet & Gynaecol, GROW Sch Oncol & Dev Biol, NL-6229 HX Maastricht, Netherlands

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2017年 / 18卷 / 02期

关键词：

next-generation sequencing; whole-exome-sequencing; whole-genome-sequencing; gene-panel; inherited cancer syndrome; cancer somatic mutation; diagnostics; genetic modifiers; theranostics; WHOLE-GENOME AMPLIFICATION; CIRCULATING TUMOR-CELLS; DIHYDROPYRIMIDINE DEHYDROGENASE GENE; CLINICALLY ACTIONABLE MUTATIONS; INHERITED COLORECTAL-CANCER; NEEDLE-ASPIRATION-CYTOLOGY; RESIDUAL DISEASE DETECTION; BREAST-CANCER; OVARIAN-CANCER; HEREDITARY BREAST;

D O I：

10.3390/ijms18020308

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页数：57

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