Current and emerging sequencing-based tools for precision cancer medicine
(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
- Edsjö, Anders LU ; Gisselsson, David LU ; Staaf, Johan LU ; Holmquist, Louise ; Fioretos, Thoas LU ; Cavelier, Lucia and Rosenquist, Richard
- organization
-
- Pathology, Lund
- Division of Clinical Genetics
- Pathways of cancer cell evolution (research group)
- LUCC: Lund University Cancer Centre
- LU Profile Area: Human rights
- Division of Translational Cancer Research
- Research Group Lung Cancer (research group)
- Breast/lung cancer (research group)
- Translational Genomic and Functional Studies of Leukemia (research group)
- LTH Profile Area: Engineering Health
- publishing date
- 2024
- 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
- 2024-09-07 01:43:07
@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}}, }