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

What is NGS in Breast cancer or ovarian cancer ?? Ans: Next-generation sequencing (NGS), also called massive parallel sequencing, was developed in the last decade and allows simultaneous sequencing of millions of DNA fragments without previous sequence knowledge. This advanced technology has been a true revolution compared with the traditional sequencing methods, in which one or a few relatively short fragments of DNA, previously amplified by Polymerase Chain Reaction (PCR), could be sequenced per tube.

Due to the high costs and intensive work required, traditional sequencing was only performed on specific DNA regions and for specific samples. For instance, genetic screening of heterozygous mutations, such as in the case of breast/ovarian cancer or Lynch syndromes, was previously based on the screening of DNA heteroduplexes through different non-sequencing methods.

Only selected samples from subjects with a strong indication for further DNA analysis would then be sequenced. Meanwhile, the Human Genome Project, which was launched in 1990, required 13 years and billions of euros in order to sequence the complete human genome.

With NGS, the today promise of today is that a complete genome can be sequenced in a few days for less than $1000 per genome. Even though we are not there yet, the implications and the impact of NGS in understanding the biological processes of diseases like cancer and in personalising patient care are unprecedented.

The present review describes the major milestones in NGS technology, the technical developments and application of NGS to the field of oncology, i.e., hereditary cancer syndromes and sporadic cancer, diagnostics, classification, therapeutics, theranostics and pharmacogenetics.

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

Rick Kamps,^1,† Rita D. Brandão,^1,† Bianca J. van den Bosch,¹ Aimee D. C. Paulussen,¹ Sofia Xanthoulea,² Marinus J. Blok,^1,‡ and Andrea Romano^2,*‡

William Chi-shing Cho, Academic EditorNGS—Next-Generation Sequencing Technology

The Sanger DNA sequencing method, also named chain terminator sequencing, was developed in 1997. This method, which was later automated and underwent slight modifications, was the sequencing gold standard until the late 2000’s . Different approaches had meantime been developed and these technologies started to be implemented in commercially available NGS DNA sequencers. The first commercial NGS sequencer was based on pyrosequencing technology (developed in 1996) and was commercialized in 2004 Roche 454^® (Roche Diagnostics, Almere, The Netherlands). Since then, the costs associated with NGS have decreased continuously, with a massive decline during the last eight years, and several NGS sequencers with different chemistries have been launched into the market. Some advantages of NGS sequencers are the high-throughput sequencing capacity of large genomic regions or small regions for many samples and the fact that they do not require previous knowledge of the genome per se. Nowadays, the use of NGS almost replaced conventional Sanger sequencing and is a very versatile approach for several clinical and non-clinical applications