Romero, I. (Ignacio)

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    Laboratory Cross-Comparison and Ring Test Trial for Tumor BRCA Testing in a Multicenter Epithelial Ovarian Cancer Series: The BORNEO GEICO 60-0 Study
    (2022) Palacios, J. (José); Gallego-Martínez, A. (Alejandro); Márquez, A. (Antonia); Yubero, A. (Alfonso); Pérez-Segura, C. (Cristina); López-Guerrero, J.A. (José Antonio); Márquez, R. (Raúl); Alarcón, J. (Jesús); Mendiola, M. (Marta); Palacio, I. (Isabel); Alkorta-Aranburu, G. (Gorka); Cueva, J. (Juan); Matito, J. (Judit); Iglesias, M. (Maria); Moreno-Bueno, G. (Gema); Gaba, L. (Lydia); Antunez-Lopez, J. R. (José Ramón); Sánchez‑Heras, A.B. (Ana Beatriz); Sánchez-Lorenzo, M. L. (María Luisa); García-Casado, Z. (Zaida); Vivancos, A. (Ana); Oaknin, A. (Ana); Arcusa, A. (Angels); Romero, I. (Ignacio); Barretina-Ginesta, P. (Pilar); Guerra-Alia, E. (Eva)
    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.
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    Prospective Real-World Gynaecological Cancer Clinical Registry with Associated Biospecimens: A Collaborative Model to Promote Translational Research between GEICO and the Spanish Biobank Network
    (2022) Herrero, A.B. (Ana B.); Recalde, D. (Delia); Gallego-Martínez, A. (Alejandro); Esteban, C. (Carmen); Levin, A. M. (Ana M.); López-Guerrero, J.A. (José Antonio); Churruca, C. (Cristina); Gómez-Raposo, C. (César); Alarcón, J. (Jesús); Mendiola, M. (Marta); González-Martín, A. (Antonio); Marquina, G. (Gloria); Perez-Fidalgo, J.A. (José Alejandro); de Juan, A. (Ana); Torres, A. (Ana); Sánchez-Lorenzo, M. L. (María Luisa); Molina, E. (Elena); Gálvez-Montosa, F. (Fernando); Rubio, M. J. (María Jesús); Romero, I. (Ignacio); Guerra-Alia, E. (Eva)
    Patient registries linked to biorepositories constitute a valuable asset for clinical and translational research in oncology. The Spanish Group of Ovarian Cancer Research (GEICO), in collaboration with the Spanish Biobank Network (RNBB), has developed a multicentre, multistakeholder, prospective virtual clinical registry (VCR) associated with biobanks for the collection of real-world data and biological samples of gynaecological cancer patients. This collaborative project aims to promote research by providing broad access to high-quality clinical data and biospecimens for future research according to the needs of investigators and to increase diagnostic and therapeutic opportunities for gynaecological cancer patients in Spain. The VCR will include the participation of more than 60 Spanish hospitals entering relevant clinical information in harmonised electronic case report forms (eCRFs) in four different cohorts: ovarian, endometrial, cervical, and rare gynaecological cancers (gestational trophoblastic disease). Initial data for the cases included till December 2021 are presented. The model described herein establishes a real-world win-win collaboration between multicentre structures, promoted and supported by GEICO, that will contribute to the success of translational research in gynaecological cancer.