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Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

Current and emerging sequencing-based tools for precision cancer medicine

Author

  • Anders Edsjö
  • David Gisselsson
  • Johan Staaf
  • Louise Holmquist
  • Thoas Fioretos
  • Lucia Cavelier
  • Richard Rosenquist

Summary, in English

Current precision cancer medicine is dependent on the analyses of a plethora of clinically relevant genomic aberrations. During the last decade, next-generation sequencing (NGS) has gradually replaced most other methods for precision cancer diagnostics, spanning from targeted tumor-informed assays and gene panel sequencing to global whole-genome and whole-transcriptome sequencing analyses. The shift has been impelled by a clinical need to assess an increasing number of genomic alterations with diagnostic, prognostic and predictive impact, including more complex biomarkers (e.g. microsatellite instability, MSI, and homologous recombination deficiency, HRD), driven by the parallel development of novel targeted therapies and enabled by the rapid reduction in sequencing costs. This review focuses on these sequencing-based methods, puts their emergence in a historic perspective, highlights their clinical utility in diagnostics and decision-making in pediatric and adult cancer, as well as raises challenges for their clinical implementation. Finally, the importance of applying sensitive tools for longitudinal monitoring of treatment response and detection of measurable residual disease, as well as future avenues in the rapidly evolving field of sequencing-based methods are discussed.

Department/s

  • Pathology, Lund
  • Division of Clinical Genetics
  • Pathways of cancer cell evolution
  • LUCC: Lund University Cancer Centre
  • LU Profile Area: Human rights
  • Division of Translational Cancer Research
  • Research Group Lung Cancer
  • Breast/lung cancer
  • Translational Genomic and Functional Studies of Leukemia
  • LTH Profile Area: Engineering Health

Publishing year

2024

Language

English

Publication/Series

Molecular Aspects of Medicine

Volume

96

Document type

Journal article review

Publisher

Elsevier

Topic

  • Cancer and Oncology

Keywords

  • Cancer genomics
  • Mutational signatures
  • Next-generation sequencing
  • Precision diagnostics
  • Precision medicine

Status

Published

Research group

  • Pathways of cancer cell evolution
  • Research Group Lung Cancer
  • Breast/lung cancer
  • Translational Genomic and Functional Studies of Leukemia

ISBN/ISSN/Other

  • ISSN: 0098-2997