{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:47:59Z","timestamp":1753876079815,"version":"3.41.2"},"reference-count":37,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T00:00:00Z","timestamp":1720137600000},"content-version":"vor","delay-in-days":186,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III and Ministerio de Ciencia e Innovaci\u00f3n, funded by FEDER funds - a way to build Europe -","award":["PI19\/00553 PI23\/00017"],"award-info":[{"award-number":["PI19\/00553 PI23\/00017"]}]},{"name":"Department of Research and Universities of the Generalitat de Catalunya and AGAUR","award":["2023SGR01112"],"award-info":[{"award-number":["2023SGR01112"]}]},{"name":"CIBER - Consorcio Centro de Investigaci\u00f3n Biom\u00e9dica en Red","award":["CB16\/12\/00234"],"award-info":[{"award-number":["CB16\/12\/00234"]}]},{"name":"Instituto de Salud Carlos III and Ministerio de Ciencia e Innovaci\u00f3n, funded by FEDER funds - a way to build Europe -","award":["PI19\/00553 PI23\/00017"],"award-info":[{"award-number":["PI19\/00553 PI23\/00017"]}]},{"name":"Department of Research and Universities of the Generalitat de Catalunya and AGAUR","award":["2023SGR01112"],"award-info":[{"award-number":["2023SGR01112"]}]},{"name":"CIBER - Consorcio Centro de Investigaci\u00f3n Biom\u00e9dica en Red","award":["CB16\/12\/00234"],"award-info":[{"award-number":["CB16\/12\/00234"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task independently due to the lack of a dedicated resource. Here we present SpadaHC, a web-based database for sharing variants in hereditary cancer genes in the Spanish population. SpadaHC is implemented using a three-tier architecture consisting of a relational database, a web tool and a bioinformatics pipeline. Contributing laboratories can share variant classifications and variants from individuals in Variant Calling Format (VCF) format. The platform supports open and restricted access, flexible dataset submissions, automatic pseudo-anonymization, VCF quality control, variant normalization and liftover between genome builds. Users can flexibly explore and search data, receive automatic discrepancy notifications and access SpadaHC population frequencies based on many criteria. In February 2024, SpadaHC included 18 laboratory members, storing 1.17 million variants from 4306 patients and 16\u2009343 laboratory classifications. In the first analysis of the shared data, we identified 84 genetic variants with clinically relevant discrepancies in their classifications and addressed them through a three-phase resolution strategy. This work highlights the importance of data sharing to promote consistency in variant classifications among laboratories, so patients and family members can benefit from more accurate clinical management.<\/jats:p>\n               <jats:p>Database URL: https:\/\/spadahc.ciberisciii.es\/<\/jats:p>","DOI":"10.1093\/database\/baae055","type":"journal-article","created":{"date-parts":[[2024,7,5]],"date-time":"2024-07-05T02:29:40Z","timestamp":1720146580000},"source":"Crossref","is-referenced-by-count":1,"title":["SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population"],"prefix":"10.1093","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8570-0345","authenticated-orcid":false,"given":"Jos\u00e9 M","family":"Moreno-Cabrera","sequence":"first","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge-IDIBELL-ONCOBELL , L\u2019Hospitalet de Llobregat, Barcelona 08908, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid, 28029, Spain"},{"name":"Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology (ICO) , L\u2019Hospitalet del Llobregat, Barcelona 08908, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1736-0112","authenticated-orcid":false,"given":"Lidia","family":"Feliubadal\u00f3","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge-IDIBELL-ONCOBELL , L\u2019Hospitalet de Llobregat, Barcelona 08908, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid, 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Pineda","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge-IDIBELL-ONCOBELL , L\u2019Hospitalet de Llobregat, Barcelona 08908, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid, 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Prada-Dacasa","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge-IDIBELL-ONCOBELL , L\u2019Hospitalet de Llobregat, Barcelona 08908, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid, 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireia","family":"Ramos-Muntada","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge-IDIBELL-ONCOBELL , L\u2019Hospitalet de Llobregat, Barcelona 08908, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid, 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3607-7045","authenticated-orcid":false,"given":"Jes\u00fas","family":"Del Valle","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge-IDIBELL-ONCOBELL , L\u2019Hospitalet de Llobregat, Barcelona 08908, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid, 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1945-3512","authenticated-orcid":false,"given":"Joan","family":"Brunet","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Program, Catalan Institute of Oncology, Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge-IDIBELL-ONCOBELL , L\u2019Hospitalet de Llobregat, Barcelona 08908, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red C\u00e1ncer (CIBERONC), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid, 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8878-349X","authenticated-orcid":false,"given":"Bernat","family":"Gel","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Group, Program for Predictive and Personalized Medicine of Cancer, Germans Trias i Pujol Research Institute (PMPPC-IGTP), Campus Can Ruti , Ctra de Can Ruti, Cam\u00ed de les Escoles, s\/n, Badalona 08916, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Curr\u00e1s-Freixes","sequence":"additional","affiliation":[{"name":"Familial Cancer Clinical Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO) , Melchor Fern\u00e1ndez Almagro, 3, Madrid 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6922-9415","authenticated-orcid":false,"given":"Bruna","family":"Calsina","sequence":"additional","affiliation":[{"name":"Familial Cancer Clinical Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO) , Melchor Fern\u00e1ndez Almagro, 3, Madrid 28029, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milton E","family":"Salazar-Hidalgo","sequence":"additional","affiliation":[{"name":"Familial Cancer 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Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Fern\u00e1ndez-Castillejo","sequence":"additional","affiliation":[{"name":"Institut d\u2019Oncologia de la Catalunya Sud (IOCS), Hospital Universitari Sant Joan de Reus (HUSJR), Institut d\u2019Investigaci\u00f3 Sanit\u00e0ria Pere Virgili (IISPV), Universitat Rovira i Virgili (URV) , Dr. Josep Laporte, 2, Reus 43204, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedes","family":"Dur\u00e1n Dom\u00ednguez","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics, University of Valladolid-Spanish National Research Council (IBGM, UVa- CSIC) , Sanz y Fores, 3, Valladolid 47003, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Arranz Ledo","sequence":"additional","affiliation":[{"name":"Cancer Genetics Group, Unit of Excellence Institute of Biomedicine 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Barcelona, s\/n, Santiago de Compostela 15706, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara","family":"Ruiz-Ponte","sequence":"additional","affiliation":[{"name":"Biomedical Network Research Centre On Rare Diseases (CIBERER), Instituto de Salud Carlos III , Monforte de Lemos, 3-5, Madrid 28029, Spain"},{"name":"Fundaci\u00f3n P\u00fablica Galega de Medicina Xen\u00f3mica (SERGAS), Instituto de Investigaci\u00f3n Sanitaria de Santiago, Grupo de Medicina Xen\u00f3mica-USC , Av. 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