Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study
| العنوان: | Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study |
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| المؤلفون: | Zaida Garcia-Casado, Ana Oaknin, Marta Mendiola, Gorka Alkorta-Aranburu, Jose Ramon Antunez-Lopez, Gema Moreno-Bueno, Jose Palacios, Alfonso Yubero, Raul Marquez, Alejandro Gallego, Ana Beatriz Sanchez-Heras, Jose Antonio Lopez-Guerrero, Cristina Perez-Segura, Pilar Barretina-Ginesta, Jesus Alarcon, Lydia Gaba, Antonia Marquez, Judit Matito, Juan Cueva, Isabel Palacio, Maria Iglesias, Angels Arcusa, Luisa Sanchez-Lorenzo, Eva Guerra-Alia, Ignacio Romero, Ana Vivancos |
| المساهمون: | Institut Català de la Salut, [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, Vall d'Hebron Barcelona Hospital Campus, AstraZeneca, [Garcia-Casado, Zaida] Fdn Inst Valenciano Oncol, Mol Biol Dept, Valencia 46009, Spain, [Antonio Lopez-Guerrero, Jose] Fdn Inst Valenciano Oncol, Mol Biol Dept, Valencia 46009, Spain, [Oaknin, Ana] Vall dHebron Inst Oncol, Med Oncol Dept, Barcelona 08035, Spain, [Mendiola, Marta] Inst Invest Biomed Hosp La Paz IdiPAZ, Madrid 28029, Spain, [Mendiola, Marta] Inst Salud Carlos III, Ctr Invest Biomed Red Canc CIBERONC, Madrid 28029, Spain, [Moreno-Bueno, Gema] Inst Salud Carlos III, Ctr Invest Biomed Red Canc CIBERONC, Madrid 28029, Spain, [Palacios, Jose] Inst Salud Carlos III, Ctr Invest Biomed Red Canc CIBERONC, Madrid 28029, Spain, [Alkorta-Aranburu, Gorka] Univ Navarra, CIMA LAB Diagnost, Pamplona 31008, Spain, [Ramon Antunez-Lopez, Jose] Hosp Clin Univ Santiago, Mol Biol Dept, Santiago 15706, Spain, [Moreno-Bueno, Gema] Fdn MD Anderson, Madrid 28033, Spain, [Marquez, Raul] Fdn MD Anderson, Madrid 28033, Spain, [Moreno-Bueno, Gema] Univ Autonoma Madrid UAM, Inst Invest Biomed Alberto Sols Conex Canc UAM CS, Dept Bioquim, IdiPAZ, Madrid 28029, Spain, [Palacios, Jose] Hosp Univ Ramon Y Cajal, Pathol Dept, Madrid 28034, Spain, [Palacios, Jose] Alcala Univ, Fac Med, Madrid 28801, Spain, [Palacios, Jose] Inst Ramon Y Cajal Hlth Res IRYCIS, Madrid 28034, Spain, [Yubero, Alfonso] Hosp Clin Univ Lozano Blesa, Med Oncol Dept, Zaragoza 50009, Spain, [Gallego, Alejandro] Hosp Univ La Paz, Med Oncol Dept, Madrid 28029, Spain, [Beatriz Sanchez-Heras, Ana] Hosp Gen Univ Elche, Med Oncol Dept, Elche 03203, Spain, [Antonio Lopez-Guerrero, Jose] Univ Catolica Valencia, Valencia 46001, Spain, [Antonio Lopez-Guerrero, Jose] Unidad Mixta Invest Canc IVO CIPF, Valencia 46009, Spain, [Perez-Segura, Cristina] Hosp St Pau & Santa Tecla, Med Oncol Dept, Tarragona 43003, Spain, [Barretina-Ginesta, Pilar] Inst Catala dOncol Girona, Med Oncol Dept, Girona 17007, Spain, [Alarcon, Jesus] Hosp Univ Son Espases, Med Oncol Dept, Palma De Mallorca 07120, Spain, [Gaba, Lydia] Hosp Clin Barcelona, Med Oncol Dept, Barcelona 08036, Spain, [Marquez, Antonia] Reg & Virgen Victoria Univ Hosp, Med Oncol Interctr Unit, IBIMA, Malaga 29010, Spain, [Matito, Judit] Vall dHebron Inst Oncol VHIO, Canc Genom Lab, Barcelona 08035, Spain, [Vivancos, Ana] Vall dHebron Inst Oncol VHIO, Canc Genom Lab, Barcelona 08035, Spain, [Cueva, Juan] Hosp Clin Univ Santiago, Med Oncol Dept, Santiago 15706, Spain, [Palacio, Isabel] Hosp Univ Cent Asturias, Med Oncol Dept, Oviedo 33011, Spain, [Iglesias, Maria] Hosp Univ Son LLatzer, Med Oncol Dept, Palma De Mallorca 07198, Spain, [Arcusa, Angels] Hosp Terrassa, Med Oncol Dept, Terrassa 08227, Spain, [Sanchez-Lorenzo, Luisa] Clin Univ Navarra, Med Oncol Dept, Pamplona 31008, Spain, [Guerra-Alia, Eva] Hosp Univ Ramon Y Cajal, Med Oncol Dept, Madrid 28034, Spain, [Romero, Ignacio] Inst Valenciano Oncol, Med Oncol Dept, Valencia 46009, Spain, Astra Zeneca Farmaceutica Spain SA |
| المصدر: | Scientia Journal of Personalized Medicine; Volume 12; Issue 11; Pages: 1842 |
| بيانات النشر: | MDPI, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Standards, Germline, Survival, Medicine (miscellaneous), Ovaris - Càncer - Aspectes genètics, Guidelines, neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas [ENFERMEDADES], Sequence variants, Association, Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT], Somatic mutations, Ovarian cancer, Other subheadings::Other subheadings::/genetics [Other subheadings], Chemotherapy, Joint-consensus-recommendation, Ring Test Trial, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms [DISEASES], Cromosomes humans - Anomalies - Diagnòstic, diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], College, BRCA mutations, BRCA testing, ovarian cancer, NGS |
| الوصف: | 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. This research was funded by Astra Zéneca Farmacéutica Spain SA (Grant Number GEICO60-0). |
| وصف الملف: | application/pdf |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac3e9951412027604b384b35ccd4809Test https://hdl.handle.net/11351/8598Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....bac3e9951412027604b384b35ccd4809 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |