dc.contributor
Institut Català de la Salut
dc.contributor
[Garcia-Casado Z] Molecular Biology Department, Fundacion Instituto Valenciano de Oncologia, Valencia, Spain. [Oaknin A] Medical Oncology Department, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Mendiola M] Instituto de Investigacion Biomedica del Hospital La Paz (IdiPAZ), Madrid, Spain. Centro de Investigacion Biomedica en Red de Cáncer (CIBERONC) Instituto de Salud Carlos III, Madrid, Spain. [Alkorta-Aranburu G] CIMA LAB Diagnostics/Universidad de Navarra, Pamplona, Spain. [Antunez-Lopez JR] Molecular Biology Department, Hospital Clinico Universitario Santiago, Santiago, Spain. [Moreno-Bueno G] Centro de Investigacion Biomedica en Red de Cáncer (CIBERONC) Instituto de Salud Carlos III, Madrid, Spain. Fundacion MD Anderson, Madrid, Spain. Departamento de Bioquímica, Instituto de Investigaciones Biomedicas ‘Alberto Sols. Conexion Cancer (UAM-CSIC), Universidad Autonoma de Madrid (UAM), IdiPAZ, Madrid, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Garcia-Casado, Zaida
dc.contributor.author
Oaknin Benzaquen, Ana Mazaltob
dc.contributor.author
Mendiola, Marta
dc.contributor.author
Alkorta-Aranburu, Gorka
dc.contributor.author
Antunez-Lopez, Jose Ramon
dc.contributor.author
Moreno-Bueno, Gema
dc.date.accessioned
2025-10-25T05:39:25Z
dc.date.available
2025-10-25T05:39:25Z
dc.date.issued
2022-12-02T13:09:14Z
dc.date.issued
2022-12-02T13:09:14Z
dc.date.issued
2022-11-04
dc.identifier
Garcia-Casado Z, Oaknin A, Mendiola M, Alkorta-Aranburu G, Antunez-Lopez JR, Moreno-Bueno G, et al. Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study. J Pers Med. 2022 Nov 4;12(11):1842.
dc.identifier
https://hdl.handle.net/11351/8598
dc.identifier
10.3390/jpm12111842
dc.identifier
000884130800001
dc.identifier.uri
http://hdl.handle.net/11351/8598
dc.description.abstract
Ovarian cancer; BRCA mutations; BRCA testing
dc.description.abstract
Cáncer de ovarios; Mutaciones BRCA; Prueba BRCA
dc.description.abstract
Càncer d'ovaris; Mutacions BRCA; Prova BRCA
dc.description.abstract
Germline and tumor BRCA testing constitutes a valuable tool for clinical decision-making in the management of epithelial ovarian cancer (EOC) patients. Tissue testing is able to identify both germline (g) and somatic (s) BRCA variants, but tissue preservation methods and the widespread implementation of NGS represent pre-analytical and analytical challenges that need to be managed. This study was carried out on a multicenter prospective GEICO cohort of EOC patients with known gBRCA status in order to determine the inter-laboratory reproducibility of tissue sBRCA testing. The study consisted of two independent experimental approaches, a bilateral comparison between two reference laboratories (RLs) testing 82 formalin-paraffin-embedded (FFPE) EOC samples each, and a Ring Test Trial (RTT) with five participating clinical laboratories (CLs) evaluating the performance of tissue BRCA testing in a total of nine samples. Importantly, labs employed their own locally adopted next-generation sequencing (NGS) analytical approach. BRCA mutation frequency in the RL sub-study cohort was 23.17%: 12 (63.1%) germline and 6 (31.6%) somatic. Concordance between the two RLs with respect to BRCA status was 84.2% (gBRCA 100%). The RTT study distributed a total of nine samples (three commercial synthetic human FFPE references, three FFPE, and three OC DNA) among five CLs. The median concordance detection rate among them was 64.7% (range: 35.3–70.6%). Analytical discrepancies were mainly due to the minimum variant allele frequency thresholds, bioinformatic pipeline filters, and downstream variant interpretation, some of them with consequences of clinical relevance. Our study demonstrates a wide range of concordance in the identification and interpretation of BRCA sequencing data, highlighting the relevance of establishing standard criteria for detecting, interpreting, and reporting BRCA variants.
dc.description.abstract
This research was funded by Astra Zéneca Farmacéutica Spain SA (Grant Number GEICO60-0).
dc.format
application/pdf
dc.relation
Journal of Personalized Medicine;12(11)
dc.relation
https://doi.org/10.3390/jpm12111842
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Ovaris - Càncer - Aspectes genètics
dc.subject
Cromosomes humans - Anomalies - Diagnòstic
dc.subject
DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms
dc.subject
Other subheadings::Other subheadings::Other subheadings::/genetics
dc.subject
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing
dc.subject
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/genética
dc.subject
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas
dc.title
Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
