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dc.creatorSánchez-Lorenzo, M. L. (María Luisa)-
dc.creatorGarcía-Casado, Z. (Zaida)-
dc.creatorOaknin, A. (Ana)-
dc.creatorMendiola, M. (Marta)-
dc.creatorAlkorta-Aranburu, G. (Gorka)-
dc.creatorAntunez-Lopez, J. R. (José Ramón)-
dc.creatorMoreno-Bueno, G. (Gema)-
dc.creatorPalacios, J. (José)-
dc.creatorYubero, A. (Alfonso)-
dc.creatorMárquez, R. (Raúl)-
dc.creatorGallego-Martínez, A. (Alejandro)-
dc.creatorSánchez‑Heras, A.B. (Ana Beatriz)-
dc.creatorLópez-Guerrero, J.A. (José Antonio)-
dc.creatorPérez-Segura, C. (Cristina)-
dc.creatorBarretina-Ginesta, P. (Pilar)-
dc.creatorAlarcón, J. (Jesús)-
dc.creatorGaba, L. (Lydia)-
dc.creatorMárquez, A. (Antonia)-
dc.creatorMatito, J. (Judit)-
dc.creatorCueva, J. (Juan)-
dc.creatorPalacio, I. (Isabel)-
dc.creatorIglesias, M. (Maria)-
dc.creatorArcusa, A. (Angels)-
dc.creatorGuerra-Alia, E. (Eva)-
dc.creatorRomero, I. (Ignacio)-
dc.creatorVivancos, A. (Ana)-
dc.date.accessioned2024-02-08T12:52:24Z-
dc.date.available2024-02-08T12:52:24Z-
dc.date.issued2022-
dc.identifier.citationSánchez-Lorenzo, M. L. (María Luisa); García-Casado, Z. (Zaida); Oaknin, A. (Ana); 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". Journal of Personalized Medicine. 12 (1842), 2022, 1 - 15es_ES
dc.identifier.urihttps://hdl.handle.net/10171/68925-
dc.description.abstractGermline 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.es_ES
dc.language.isoenges_ES
dc.rightsinfo:eu-repo/semantics/openAccesses_ES
dc.subjectRing Test Triales_ES
dc.subjectBRCA testinges_ES
dc.subjectNGSes_ES
dc.subjectBRCA mutationses_ES
dc.subjectOvarian canceres_ES
dc.titleLaboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Studyes_ES
dc.typeinfo:eu-repo/semantics/articlees_ES
dc.relation.publisherversionhttps://www.mdpi.com/2075-4426/12/11/1842es_ES
dc.editorial.note© 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) licensees_ES
dadun.citation.endingPage15es_ES
dadun.citation.number1842es_ES
dadun.citation.publicationNameJournal of Personalized Medicinees_ES
dadun.citation.startingPage1es_ES
dadun.citation.volume12es_ES

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