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Current and emerging sequencing-based tools for precision cancer medicine

Edsjö, Anders LU ; Gisselsson, David LU ; Staaf, Johan LU orcid ; Holmquist, Louise ; Fioretos, Thoas LU ; Cavelier, Lucia and Rosenquist, Richard (2024) In Molecular Aspects of Medicine 96.
Abstract

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... (More)

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.

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author
; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Cancer genomics, Mutational signatures, Next-generation sequencing, Precision diagnostics, Precision medicine
in
Molecular Aspects of Medicine
volume
96
article number
101250
publisher
Elsevier
external identifiers
  • pmid:38330674
  • scopus:85184750813
ISSN
0098-2997
DOI
10.1016/j.mam.2024.101250
language
English
LU publication?
yes
id
e7fdea95-3152-429f-bbfe-09ec9a04797b
date added to LUP
2024-03-07 15:43:02
date last changed
2024-04-19 12:20:59
@article{e7fdea95-3152-429f-bbfe-09ec9a04797b,
  abstract     = {{<p>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.</p>}},
  author       = {{Edsjö, Anders and Gisselsson, David and Staaf, Johan and Holmquist, Louise and Fioretos, Thoas and Cavelier, Lucia and Rosenquist, Richard}},
  issn         = {{0098-2997}},
  keywords     = {{Cancer genomics; Mutational signatures; Next-generation sequencing; Precision diagnostics; Precision medicine}},
  language     = {{eng}},
  publisher    = {{Elsevier}},
  series       = {{Molecular Aspects of Medicine}},
  title        = {{Current and emerging sequencing-based tools for precision cancer medicine}},
  url          = {{http://dx.doi.org/10.1016/j.mam.2024.101250}},
  doi          = {{10.1016/j.mam.2024.101250}},
  volume       = {{96}},
  year         = {{2024}},
}