{"@context":{"@vocab":"https://cir.nii.ac.jp/schema/1.0/","rdfs":"http://www.w3.org/2000/01/rdf-schema#","dc":"http://purl.org/dc/elements/1.1/","dcterms":"http://purl.org/dc/terms/","foaf":"http://xmlns.com/foaf/0.1/","prism":"http://prismstandard.org/namespaces/basic/2.0/","cinii":"http://ci.nii.ac.jp/ns/1.0/","datacite":"https://schema.datacite.org/meta/kernel-4/","ndl":"http://ndl.go.jp/dcndl/terms/","jpcoar":"https://github.com/JPCOAR/schema/blob/master/2.0/"},"@id":"https://cir.nii.ac.jp/crid/1363388845361358720.json","@type":"Article","productIdentifier":[{"identifier":{"@type":"DOI","@value":"10.1182/blood-2002-07-2170"}},{"identifier":{"@type":"URI","@value":"http://ashpublications.org/blood/article-pdf/101/4/1249/1261755/h80403001249.pdf"}},{"identifier":{"@type":"NAID","@value":"30022494623"}}],"dc:title":[{"@value":"A 20-year perspective on the International Fanconi Anemia Registry (IFAR)"}],"description":[{"type":"abstract","notation":[{"@value":"<jats:p>Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents and cancer predisposition. Recent evidence for the interactions of ataxia-telangiectasia mutated protein ATM and breast cancer susceptibility proteins BRCA1 and BRCA2 (identified as FANCD1) with other known FA proteins suggests that FA proteins have a significant role in DNA repair/recombination and cell cycle control. The International Fanconi Anemia Registry (IFAR), a prospectively collected database of FA patients, allows us the unique opportunity to analyze the natural history of this rare, clinically heterogeneous disorder in a large number of patients. Of the 754 subjects in this study, 601 (80%) experienced the onset of bone marrow failure (BMF), and 173 (23%) had a total of 199 neoplasms. Of these neoplasms, 120 (60%) were hematologic and 79 (40%) were nonhematologic. The risk of developing BMF and hematologic and nonhematologic neoplasms increased with advancing age with a 90%, 33%, and 28% cumulative incidence, respectively, by 40 years of age. Univariate analysis revealed a significantly earlier onset of BMF and poorer survival for complementation group C compared with groups A and G; however, there was no significant difference in the time to hematologic or nonhematologic neoplasm development between these groups. Multivariate analysis of overall survival time shows that FANCCmutations (P = .007) and hematopoietic stem cell transplantation (P = < .0001) define a poor-risk subgroup. The results of this study of patients registered in the IFAR over a 20-year period provide information that will enable better prediction of outcome and aid clinicians with decisions regarding major therapeutic modalities.</jats:p>"}]}],"creator":[{"@id":"https://cir.nii.ac.jp/crid/1383388845361358724","@type":"Researcher","foaf:name":[{"@value":"David I. Kutler"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]},{"@id":"https://cir.nii.ac.jp/crid/1383388845361358848","@type":"Researcher","foaf:name":[{"@value":"Bhuvanesh Singh"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]},{"@id":"https://cir.nii.ac.jp/crid/1383388845361358722","@type":"Researcher","foaf:name":[{"@value":"Jaya Satagopan"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]},{"@id":"https://cir.nii.ac.jp/crid/1383388845361358726","@type":"Researcher","foaf:name":[{"@value":"Sat Dev Batish"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]},{"@id":"https://cir.nii.ac.jp/crid/1383388845361358723","@type":"Researcher","foaf:name":[{"@value":"Marianne Berwick"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]},{"@id":"https://cir.nii.ac.jp/crid/1383388845361358720","@type":"Researcher","foaf:name":[{"@value":"Philip F. Giampietro"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]},{"@id":"https://cir.nii.ac.jp/crid/1383388845361358721","@type":"Researcher","foaf:name":[{"@value":"Helmut Hanenberg"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]},{"@id":"https://cir.nii.ac.jp/crid/1383388845361358725","@type":"Researcher","foaf:name":[{"@value":"Arleen D. Auerbach"}],"jpcoar:affiliationName":[{"@value":"From the Memorial Sloan-Kettering Cancer Center, New York, NY; The Rockefeller University, New York, NY; and the Department of Pediatric Hematology and Oncology, Heinrich Heine University Medical Center, Düsseldorf, Germany."}]}],"publication":{"publicationIdentifier":[{"@type":"EISSN","@value":"15280020"},{"@type":"PISSN","@value":"00064971"},{"@type":"PISSN","@value":"http://id.crossref.org/issn/00064971"}],"prism:publicationName":[{"@value":"Blood"}],"dc:publisher":[{"@value":"American Society of Hematology"}],"prism:publicationDate":"2003-02-15","prism:volume":"101","prism:number":"4","prism:startingPage":"1249","prism:endingPage":"1256"},"reviewed":"false","url":[{"@id":"http://ashpublications.org/blood/article-pdf/101/4/1249/1261755/h80403001249.pdf"}],"createdAt":"2003-01-30","modifiedAt":"2023-04-24","relatedProduct":[{"@id":"https://cir.nii.ac.jp/crid/1360004231519690880","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Excellent outcome of allogeneic bone marrow transplantation for Fanconi anemia using fludarabine-based reduced-intensity conditioning regimen"}]},{"@id":"https://cir.nii.ac.jp/crid/1360021395159969664","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"RFWD3-Mediated Ubiquitination Promotes Timely Removal of Both RPA and RAD51 from DNA Damage Sites to Facilitate Homologous Recombination"}]},{"@id":"https://cir.nii.ac.jp/crid/1360576118839443328","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Multicenter retrospective analysis of clinicopathological features and prognosis of oral tongue squamous cell carcinoma in adolescent and young adult patients"}]},{"@id":"https://cir.nii.ac.jp/crid/1360580229819323904","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Mammalian Resilience Revealed by a Comparison of Human Diseases and Mouse Models Associated With DNA Helicase Deficiencies"}]},{"@id":"https://cir.nii.ac.jp/crid/1360848656130773888","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia"}]},{"@id":"https://cir.nii.ac.jp/crid/1361131414613363712","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@value":"A founder variant in the South Asian population leads to a high prevalence of<i>FANCL</i>Fanconi anemia cases in India"}]},{"@id":"https://cir.nii.ac.jp/crid/1390001205031570944","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@language":"ja","@value":"Fanconi貧血診療の参照ガイド"},{"@language":"ja-Kana","@value":"Fanconi ヒンケツ シンリョウ ノ サンショウ ガイド"}]},{"@id":"https://cir.nii.ac.jp/crid/1390020552350854528","@type":"Article","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"A case of multiple squamous cell carcinoma and Bowen’s disease complicated by Fanconi anemia : a case report"},{"@language":"ja","@value":"Fanconi貧血患者に多発した有棘細胞癌とBowen病の1例"}]},{"@id":"https://cir.nii.ac.jp/crid/1390282681424912768","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"7. Congenital Bone Marrow Failure Syndrome"},{"@language":"ja","@value":"7．先天性骨髄不全症候群"},{"@value":"先天性骨髄不全症候群"},{"@language":"ja-Kana","@value":"センテンセイ コツズイ フゼン ショウコウグン"}]},{"@id":"https://cir.nii.ac.jp/crid/1390564237997955712","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"The histopathology of bone marrow failure in children"}]},{"@id":"https://cir.nii.ac.jp/crid/1390570862077689088","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Three Cases of Esophageal Cancer Related to Fanconi Anemia"}]},{"@id":"https://cir.nii.ac.jp/crid/1390845713053225728","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isReferencedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Superficial Esophageal Cancer in a Fanconi Anemia Patient That Was Treated Successfully by Endoscopic Submucosal Resection"}]},{"@id":"https://cir.nii.ac.jp/crid/1520009407159505664","@type":"Article","resourceType":"学術雑誌論文(journal article)","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@value":"Fanconi貧血の診断と治療"},{"@language":"ja-Kana","@value":"Fanconi ヒンケツ ノ シンダン ト チリョウ"}]},{"@id":"https://cir.nii.ac.jp/crid/1572543025685073280","@type":"Article","relationType":["isCitedBy"],"jpcoar:relatedTitle":[{"@language":"en","@value":"Excellent outcome of allogeneic bone marrow transplantation for Fanconi anemia using fludarabine-based reduced-intensity conditioning regimen"}]}],"dataSourceIdentifier":[{"@type":"CROSSREF","@value":"10.1182/blood-2002-07-2170"},{"@type":"CIA","@value":"30022494623"},{"@type":"CROSSREF","@value":"10.1007/s12185-012-1079-9_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.2169/internalmedicine.6926-20_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.2169/internalmedicine.1434-18_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.3960/jslrt.18018_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.1097/md.0000000000027560_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.3389/fmolb.2022.934042_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.1007/s00277-018-3517-0_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.1016/j.molcel.2017.04.022_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.2169/naika.101.1977_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.5227/skincancer.39.204_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"},{"@type":"CROSSREF","@value":"10.1002/humu.23914_references_DOI_RbNyGbZpaLxmq3n6FOiY8LKDvYq"}]}