{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T04:24:25Z","timestamp":1792815865259,"version":"4.5.0"},"reference-count":45,"publisher":"American Society of Hematology","issue":"4","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2003,2,15]]},"abstract":"<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\u2009=\u2009.007) and hematopoietic stem cell transplantation (P\u2009=\u2009&lt;\u2009.0001) 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>","DOI":"10.1182\/blood-2002-07-2170","type":"journal-article","created":{"date-parts":[[2003,1,30]],"date-time":"2003-01-30T16:36:12Z","timestamp":1043944572000},"page":"1249-1256","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":618,"title":["A 20-year perspective on the International Fanconi Anemia Registry (IFAR)"],"prefix":"10.1182","volume":"101","author":[{"given":"David I.","family":"Kutler","sequence":"first","affiliation":[{"name":"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, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhuvanesh","family":"Singh","sequence":"additional","affiliation":[{"name":"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, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaya","family":"Satagopan","sequence":"additional","affiliation":[{"name":"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, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sat Dev","family":"Batish","sequence":"additional","affiliation":[{"name":"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, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Berwick","sequence":"additional","affiliation":[{"name":"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, Du\u0308sseldorf, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip F.","family":"Giampietro","sequence":"additional","affiliation":[{"name":"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, Du\u0308sseldorf, 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