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Updated: Jan 4, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

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Next Generation Sequencing (NGS): A Revolutionary Technology in Pharmacogenomics and Personalized Medicine in Cancer

Stefania Morganti1,2, Paolo Tarantino1,2, Emanuela Ferraro1,2

  • 1Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.

Advances in Experimental Medicine and Biology
|November 13, 2019
PubMed

Insights

Next-generation sequencing (NGS) transformed cancer research by enabling cost-effective tumor DNA analysis. This genomic era approach underpins personalized medicine and pharmacogenomics in oncology.

Area of Science:

  • Oncology
  • Genomics
  • Personalized Medicine

Background:

  • The Human Genome Project spurred focus on cancer genome sequencing.
  • Next-generation sequencing (NGS) emerged in 2006, revolutionizing tumor DNA analysis.
  • NGS facilitated a shift towards a genomic era in cancer research and treatment.

Purpose of the Study:

  • To review the history, techniques, and applications of NGS in oncology.
  • To highlight the role of NGS in advancing Personalized Medicine (PM).
  • To discuss the emerging field of pharmacogenomics in cancer care.

Main Methods:

  • Review of historical developments in cancer genome sequencing.
  • Discussion of available Next-Generation Sequencing (NGS) technologies.
  • Analysis of NGS applications in identifying actionable cancer alterations.

Main Results:

  • NGS enables cost- and time-effective sequencing of tumor DNA.
  • NGS is crucial for detecting somatic mutations, resistance mechanisms, and mutational burden.
  • NGS supports the identification of germline mutations for improved cancer care.

Conclusions:

  • NGS has established the foundation for a new paradigm in cancer care.
  • NGS is integral to the advancement of Personalized Medicine in oncology.
  • Pharmacogenomics is an increasingly important research area within NGS-driven cancer treatment.
Keywords:
Genomic eraHomologous recombinationLiquid biopsyMicrosatellite instabilityNext-generation-sequencing (NGS)OncogenesisPersonalized medicinePharmacogenomicsRNA sequencingSequencingTumor mutational burden

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