Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours Article Swipe
Elisa Izquierdo
,
Lina Yuan
,
Sally L. George
,
Michael Hubank
,
Chris Jones
,
Paula Proszek
,
Janet Shipley
,
Susanne A. Gatz
,
Caedyn L. Stinson
,
Andrew S. Moore
,
Steven C. Clifford
,
Debbie Hicks
,
Janet C. Lindsey
,
Rebecca M. Hill
,
Thomas S. Jacques
,
Jane Chalker
,
Khin Thway
,
Simon O’Connor
,
Lynley V. Marshall
,
Lucas Moreno
,
Andrew D.J. Pearson
,
Louis Chesler
,
Brian A. Walker
,
David González de Castro
·
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.18632/oncotarget.23000
YOU?
·
· 2017
· Open Access
·
· DOI: https://doi.org/10.18632/oncotarget.23000
The implementation of personalised medicine in childhood cancers has been limited by a lack of clinically validated multi-target sequencing approaches specific for paediatric solid tumours. In order to support innovative clinical trials in high-risk patients with unmet need, we have developed a clinically relevant targeted sequencing panel spanning 311 kb and comprising 78 genes involved in childhood cancers. A total of 132 samples were used for the validation of the panel, including Horizon Discovery cell blends (n=4), cell lines (n=15), formalin-fixed paraffin embedded (FFPE, n=83) and fresh frozen tissue (FF, n=30) patient samples. Cell blends containing known single nucleotide variants (SNVs, n=528) and small insertion-deletions (indels n=108) were used to define panel sensitivities of ≥98% for SNVs and ≥83% for indels [95% CI] and panel specificity of ≥98% [95% CI] for SNVs. FFPE samples performed comparably to FF samples (n=15 paired). Of 95 well-characterised genetic abnormalities in 33 clinical specimens and 13 cell lines (including SNVs, indels, amplifications, rearrangements and chromosome losses), 94 (98.9%) were detected by our approach. We have validated a robust and practical methodology to guide clinical management of children with solid tumours based on their molecular profiles. Our work demonstrates the value of targeted gene sequencing in the development of precision medicine strategies in paediatric oncology.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.18632/oncotarget.23000
- http://www.oncotarget.com/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=23000&path%5B%5D=72563
- OA Status
- diamond
- Cited By
- 19
- References
- 56
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2951759440
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2951759440Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.18632/oncotarget.23000Digital Object Identifier
- Title
-
Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumoursWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2017Year of publication
- Publication date
-
2017-12-06Full publication date if available
- Authors
-
Elisa Izquierdo, Lina Yuan, Sally L. George, Michael Hubank, Chris Jones, Paula Proszek, Janet Shipley, Susanne A. Gatz, Caedyn L. Stinson, Andrew S. Moore, Steven C. Clifford, Debbie Hicks, Janet C. Lindsey, Rebecca M. Hill, Thomas S. Jacques, Jane Chalker, Khin Thway, Simon O’Connor, Lynley V. Marshall, Lucas Moreno, Andrew D.J. Pearson, Louis Chesler, Brian A. Walker, David González de CastroList of authors in order
- Landing page
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https://doi.org/10.18632/oncotarget.23000Publisher landing page
- PDF URL
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https://www.oncotarget.com/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=23000&path%5B%5D=72563Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
diamondOpen access status per OpenAlex
- OA URL
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https://www.oncotarget.com/index.php?journal=oncotarget&page=article&op=download&path%5B%5D=23000&path%5B%5D=72563Direct OA link when available
- Concepts
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Medicine, Oncology, Childhood cancer, Targeted therapy, DNA sequencing, Bioinformatics, Internal medicine, Computational biology, Cancer, Gene, Biology, GeneticsTop concepts (fields/topics) attached by OpenAlex
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19Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 3, 2023: 1, 2022: 4, 2021: 4Per-year citation counts (last 5 years)
- References (count)
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56Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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