{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T02:29:44Z","timestamp":1790216984164,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T00:00:00Z","timestamp":1731974400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","award":["FABRAT PID2021\u2010122411OB\u2010I00\/AEI\/10.13039\/50110001"],"award-info":[{"award-number":["FABRAT PID2021\u2010122411OB\u2010I00\/AEI\/10.13039\/50110001"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003030","name":"Ag\u00e8ncia de Gesti\u00f3 d'Ajuts Universitaris i de Recerca","doi-asserted-by":"publisher","award":["2021\u2010SGR\u201000835"],"award-info":[{"award-number":["2021\u2010SGR\u201000835"]}],"id":[{"id":"10.13039\/501100003030","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["ICI22\/00076"],"award-info":[{"award-number":["ICI22\/00076"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, and extreme chromosome fragility. To better understand the natural history of FA, identify genetic risk and prognostic factors, and develop novel therapeutic strategies, the Spanish Registry of Patients with FA collects data on clinical features, chromosome fragility, genetic subtypes, and DNA sequencing with informed consent of participating individuals. In this article, we describe the clinical evolution of 227 patients followed up for up to 30\u2009years, for whom our data indicate a cumulative cancer incidence of 86% by age 50. We found that patients with lower chromosome fragility had a milder malformation spectrum and better outcomes in terms of later\u2010onset hematologic impairment, less severe bone marrow failure, and lower cancer risk. We also found that outcomes were better for patients with mutations leading to mutant FANCA protein expression (genetic hypomorphism) than for patients lacking this protein. Likewise, prognosis was consistently better for patients with biallelic mutations in\n                    <jats:italic>FANCD2<\/jats:italic>\n                    (mainly hypomorphic mutations) than for patients with biallelic mutations in\n                    <jats:italic>FANCA<\/jats:italic>\n                    and\n                    <jats:italic>FANCG<\/jats:italic>\n                    , with the lack of the mutant protein in patients with biallelic mutations in\n                    <jats:italic>FANCG<\/jats:italic>\n                    contributing to their poorer outcomes. Our results regarding the clinical impact of chromosome fragility and genetic hypomorphism suggest that mutant FA proteins retain residual activity. This finding should encourage the development of novel therapeutic strategies aimed at partially or fully enhancing mutant FA function, thereby preventing or delaying bone marrow failure and cancer in patients with FA.\n                  <\/jats:p>\n                  <jats:p>Clinical Trial Registration number: NCT06490510.<\/jats:p>","DOI":"10.1002\/ajh.27520","type":"journal-article","created":{"date-parts":[[2024,11,19]],"date-time":"2024-11-19T23:59:53Z","timestamp":1732060793000},"page":"272-284","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Prognostic significance of mutation type and chromosome fragility in Fanconi anemia"],"prefix":"10.1002","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1417-7731","authenticated-orcid":false,"given":"Mar\u00eda Jos\u00e9","family":"Ram\u00edrez","sequence":"first","affiliation":[{"name":"Joint Research Unit on Genomic Medicine, Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"},{"name":"Universitat Aut\u00f2noma de Barcelona (UAB)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roser","family":"Pujol","sequence":"additional","affiliation":[{"name":"Joint Research Unit on Genomic Medicine, Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"},{"name":"Universitat Aut\u00f2noma de Barcelona (UAB)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Minguill\u00f3n","sequence":"additional","affiliation":[{"name":"La Paz Hospital Institute for Health Research (IdiPAZ) La Paz University Hospital; Pediatric Oncohematology, Spanish National Cancer Research Centre (CNIO)  Madrid Spain"},{"name":"Centro de Investigaciones Energ\u00e9ticas Medioambientales y Tecnol\u00f3gicas (CIEMAT)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Bogliolo","sequence":"additional","affiliation":[{"name":"Joint Research Unit on Genomic Medicine, Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Department of Genetics and Microbiology, Faculty of Biosciences Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8306-3474","authenticated-orcid":false,"given":"Ilaria","family":"Persico","sequence":"additional","affiliation":[{"name":"Joint Research Unit on Genomic Medicine, Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Institute of Biochemistry II, Faculty of Medicine Goethe University Frankfurt  Frankfurt Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8912-1890","authenticated-orcid":false,"given":"Debora","family":"Cavero","sequence":"additional","affiliation":[{"name":"Joint Research Unit on Genomic Medicine, Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"},{"name":"Universitat Aut\u00f2noma de Barcelona (UAB)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"de la Cal","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"},{"name":"Centro de Investigaciones Energ\u00e9ticas Medioambientales y Tecnol\u00f3gicas (CIEMAT)  Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"R\u00edo","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"},{"name":"Centro de Investigaciones Energ\u00e9ticas Medioambientales y Tecnol\u00f3gicas (CIEMAT)  Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Navarro","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"},{"name":"Centro de Investigaciones Energ\u00e9ticas Medioambientales y Tecnol\u00f3gicas (CIEMAT)  Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Antonio","family":"Casado","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"},{"name":"Centro de Investigaciones Energ\u00e9ticas Medioambientales y Tecnol\u00f3gicas (CIEMAT)  Madrid Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almudena","family":"Bailador","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Energ\u00e9ticas Medioambientales y Tecnol\u00f3gicas (CIEMAT)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Sanchez","family":"de la Fuente","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Energ\u00e9ticas Medioambientales y Tecnol\u00f3gicas (CIEMAT)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2826-9565","authenticated-orcid":false,"given":"Miguel L\u00f3pez","family":"de Heredia","sequence":"additional","affiliation":[{"name":"Joint Research Unit on Genomic Medicine, Universitat Aut\u00f2noma de Barcelona (UAB)\u2010IR SANT PAU  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER, ISCIII)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Almaz\u00e1n","sequence":"additional","affiliation":[{"name":"Hospital Germans Trias i Pujol  Badalona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4280-4432","authenticated-orcid":false,"given":"M. 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