Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors

The increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance...

Descripción completa

Detalles Bibliográficos
Autores: Martinez-Fernandez, P, Pose, P, Dolz-Gaiton, R, Garcia, A, Trigo-Sanchez, I, Rodriguez-Zarco, E, Garcia-Ruiz, M, Barba, I, Izquierdo-Garcia, M, Valero-Garcia, J, Ruiz, C, Lazaro, M, Carbonell, P, Gargallo, P, Mendez, C, Rios-Martin, JJ, Palmeiro-Uriach, A, Camarasa-Lillo, N, Forteza-Vila, J, Calabria, I
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
Repositorio:r-FISABIO. Repositorio Institucional de Producción Científica
OAI Identifier:oai:fisabio.fundanetsuite.com:p10819
Acceso en línea:https://fisabio.portalinvestigacion.com/publicaciones/10819
Access Level:acceso abierto
Palabra clave:next-generation sequencing (NGS)
validation
gene panels
actionable mutations
precision oncology
targeted therapies
adult solid tumors
id ES_ccb7bcd75473e77e5ce045df53399056
oai_identifier_str oai:fisabio.fundanetsuite.com:p10819
network_acronym_str ES
network_name_str España
repository_id_str
spelling Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid TumorsMartinez-Fernandez, PPose, PDolz-Gaiton, RGarcia, ATrigo-Sanchez, IRodriguez-Zarco, EGarcia-Ruiz, MBarba, IIzquierdo-Garcia, MValero-Garcia, JRuiz, CLazaro, MCarbonell, PGargallo, PMendez, CRios-Martin, JJPalmeiro-Uriach, ACamarasa-Lillo, NForteza-Vila, JCalabria, Inext-generation sequencing (NGS)validationgene panelsactionable mutationsprecision oncologytargeted therapiesadult solid tumorsThe increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance of high quality standards for clinical accreditation. Herein, we present the analytical and clinical feasibility study of a hybridization capture-based NGS panel (Action OncoKitDx) for the analysis of somatic mutations, copy number variants (CNVs), fusions, pharmacogenetic SNPs and Microsatellite Instability (MSI) determination in formalin-fixed paraffin-embedded (FFPE) tumor samples. A total of 64 samples were submitted to extensive analytical validation for the identification of previously known variants. An additional set of 166 tumor and patient-matched normal samples were sequenced to assess the clinical utility of the assay across different tumor types. The panel demonstrated good specificity, sensitivity, reproducibility, and repeatability for the identification of all biomarkers analyzed and the 5% limit of detection set was validated. Among the clinical cohorts, the assay revealed pathogenic genomic alterations in 97% of patient cases, and in 82.7%, at least one clinically relevant variant was detected. The validation of accuracy and robustness of this assay supports the Action OncoKitDx's utility in adult solid tumors.MDPI2021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://fisabio.portalinvestigacion.com/publicaciones/10819Journal of Personalized MedicineISSN: 20754426reponame:r-FISABIO. Repositorio Institucional de Producción Científicainstname:Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)Inglésinfo:eu-repo/semantics/openAccessoai:fisabio.fundanetsuite.com:p108192026-06-11T12:45:17Z
dc.title.none.fl_str_mv Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
title Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
spellingShingle Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
Martinez-Fernandez, P
next-generation sequencing (NGS)
validation
gene panels
actionable mutations
precision oncology
targeted therapies
adult solid tumors
title_short Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
title_full Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
title_fullStr Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
title_full_unstemmed Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
title_sort Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors
dc.creator.none.fl_str_mv Martinez-Fernandez, P
Pose, P
Dolz-Gaiton, R
Garcia, A
Trigo-Sanchez, I
Rodriguez-Zarco, E
Garcia-Ruiz, M
Barba, I
Izquierdo-Garcia, M
Valero-Garcia, J
Ruiz, C
Lazaro, M
Carbonell, P
Gargallo, P
Mendez, C
Rios-Martin, JJ
Palmeiro-Uriach, A
Camarasa-Lillo, N
Forteza-Vila, J
Calabria, I
author Martinez-Fernandez, P
author_facet Martinez-Fernandez, P
Pose, P
Dolz-Gaiton, R
Garcia, A
Trigo-Sanchez, I
Rodriguez-Zarco, E
Garcia-Ruiz, M
Barba, I
Izquierdo-Garcia, M
Valero-Garcia, J
Ruiz, C
Lazaro, M
Carbonell, P
Gargallo, P
Mendez, C
Rios-Martin, JJ
Palmeiro-Uriach, A
Camarasa-Lillo, N
Forteza-Vila, J
Calabria, I
author_role author
author2 Pose, P
Dolz-Gaiton, R
Garcia, A
Trigo-Sanchez, I
Rodriguez-Zarco, E
Garcia-Ruiz, M
Barba, I
Izquierdo-Garcia, M
Valero-Garcia, J
Ruiz, C
Lazaro, M
Carbonell, P
Gargallo, P
Mendez, C
Rios-Martin, JJ
Palmeiro-Uriach, A
Camarasa-Lillo, N
Forteza-Vila, J
Calabria, I
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv next-generation sequencing (NGS)
validation
gene panels
actionable mutations
precision oncology
targeted therapies
adult solid tumors
topic next-generation sequencing (NGS)
validation
gene panels
actionable mutations
precision oncology
targeted therapies
adult solid tumors
description The increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance of high quality standards for clinical accreditation. Herein, we present the analytical and clinical feasibility study of a hybridization capture-based NGS panel (Action OncoKitDx) for the analysis of somatic mutations, copy number variants (CNVs), fusions, pharmacogenetic SNPs and Microsatellite Instability (MSI) determination in formalin-fixed paraffin-embedded (FFPE) tumor samples. A total of 64 samples were submitted to extensive analytical validation for the identification of previously known variants. An additional set of 166 tumor and patient-matched normal samples were sequenced to assess the clinical utility of the assay across different tumor types. The panel demonstrated good specificity, sensitivity, reproducibility, and repeatability for the identification of all biomarkers analyzed and the 5% limit of detection set was validated. Among the clinical cohorts, the assay revealed pathogenic genomic alterations in 97% of patient cases, and in 82.7%, at least one clinically relevant variant was detected. The validation of accuracy and robustness of this assay supports the Action OncoKitDx's utility in adult solid tumors.
publishDate 2021
dc.date.none.fl_str_mv 2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://fisabio.portalinvestigacion.com/publicaciones/10819
url https://fisabio.portalinvestigacion.com/publicaciones/10819
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Journal of Personalized Medicine
ISSN: 20754426
reponame:r-FISABIO. Repositorio Institucional de Producción Científica
instname:Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
instname_str Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
reponame_str r-FISABIO. Repositorio Institucional de Producción Científica
collection r-FISABIO. Repositorio Institucional de Producción Científica
repository.name.fl_str_mv
repository.mail.fl_str_mv
_version_ 1869419745349992448
score 15,811543

Similares en LA Referencia