Next Generation Sequencing (NGS) and Cancer: New Steps Towards Personalized Medicine

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About this Research Topic

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Background

Cancer is one of the major causes of death worldwide. The introduction of next-generation sequencing (NGS) is one of the most important technological advances in genetics and genomics. Since its inception, NGS has shifted from an innovative research tool to a successful routine method for clinical molecular diagnosis. Compared with conventional genotyping and sequencing methods, NGS has been proved to be more flexible and time cost-effective. Clinical oncology is extremely related to new emerging NGS applications, that are constantly evolving and oriented towards forefront and innovation. Cancer research has increasingly focused on the sequencing of cancer genomes, to deepen the genetic basis of oncogenesis and to enable the detection of actionable alterations such as somatic driver mutations, germline pathogenic or likely pathogenic variants, resistance mechanisms, assessment of mutational burden, which have settled the base of a new approach in cancer care. To date, NGS panels can reveal various genetic aberrations, point mutations, indels, and copy number variations (CNVs) in a single test and provide flexibility to target therapeutically actionable genes for germline, tissue and even liquid biopsy testing.

With the purpose of stratifying patients according to their tumor mutational profile and correlating therapies to genetic signature, high-throughput sequencing has become a standard in clinical practice. Furthermore, it can also improve outcomes for relatives of affected patients by enhancing and revising cancer screening and preventive therapies. In clinical practice, however, genetic testing seems still limited to those mutations known to be targetable in each specific tumor subtype, thus confining the data obtained from genomic analysis to a strictly disease-oriented approach.

This research topic aims at collecting contributions to encourage and consolidate the transition of NGS into oncology clinical practice, with particular emphasis on new evidence on molecular profiling for precision cancer therapies and prevention. We welcome original studies, brief reports and reviews. These may include but are not limited to:

1. Therapeutic potential of targeting pathogenic or likely pathogenic variants identified through NGS.

2. Identification of novel and emerging genetic variants detected through the use of widespread multigene panel testing.

3. Application of NGS in identifying genetic aberrations for personalized medicine that will improve screening, early detection and disease follow-up.

4. Implementation and innovation of cutting-edge NGS approaches for the improvement of molecular profiling in precision medicine oncology.

5. Applications of NGS in unlocking the tumor heterogeneity, clonality and treatment resistance mechanisms.

6. Application of NGS in genetic counseling.

Bioinformatic studies are welcome, however, these should not be based solely on analysis of publicly available datasets such as TCGA. It is essential to have an independent validation cohort for statistically significant confirmation of the findings communicated.

Keywords: NGS, Sequencing, Genomics, Cancer, Precision Medicine

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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