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Prepublished online as a Blood First Edition Paper on September 26, 2002; DOI 10.1182/blood-2002-07-2170. This Article Full Text (PDF) All Versions of this Article: 2002-07-2170v1 101/4/1249    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Kutler, D. I Articles by Auerbach, A. D Search for Related Content PubMed PubMed Citation Articles by Kutler, D. I Articles by Auerbach, A. D Social Bookmarking                   What's this? Submitted July 19, 2002 Accepted September 18, 2002 A 20 year perspective of the International Fanconi Anemia Registry (IFAR) David I Kutler, Bhuvanesh Singh, Jaya Satagopan, Sat Dev Batish, Marianne Berwick, Philip F Giampietro, Helmut Hanenberg, and Arleen D Auerbach* Laboratory of Epithelial Cancer Biology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA; Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY, USA Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA; Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY, USA Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY, USA Department of Medical Genetic Services, Marshfield Clinic, Marshfield, WI, USA Department of Pediatric Hematology & Oncology, Heinrich Heine University Medical Center, Dusseldorf, Germany; Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY, USA Laboratory of Epithelial Cancer Biology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA; Department of Medical Genetic Services, Marshfield Clinic, Marshfield, WI, USA Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA * Corresponding author; email: auerbac{at}mail.rockefeller.edu. Fanconi anemia (FA) is an autosomal recessive disorder characterized by cellular hypersensitivity to DNA cross-linking agents and cancer predisposition. Recent studies demonstrate interactions among ATM, BRCA1/BRAC2 (FANCD1) and other FA proteins, suggesting a function for the FA proteins 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 non-hematologic. The risk of developing BMF, hematologic and non-hematologic neoplasms increased with advancing age with a 90%, 33% and 28% cumulative incidence by 40 years of age, respectively. Univariate analysis revealed a significantly earlier onset of BMF and poorer survival for complementation group C compared to groups A and G, however there was no significant difference in the time to hematologic or non-hematologic neoplasm development between these groups. Multivariate analysis of overall survival time shows that FANCC mutations (p= 0.007) and hematopoietic stem cell transplant (p=<0.0001) 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. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: F. Yuan, J. El Hokayem, W. Zhou, and Y. Zhang FANCI Protein Binds to DNA and Interacts with FANCD2 to Recognize Branched Structures J. Biol. Chem., September 4, 2009; 284(36): 24443 - 24452. 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