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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 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 Citation Map 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. Related Collections Neoplasia Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 February 2003, Vol. 101, No. 4, pp. 1249-1256 CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS A 20-year perspective on 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 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. 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 FANCC mutations (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. © 2003 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: P. Rio, N. W. Meza, A. Gonzalez-Murillo, S. Navarro, L. Alvarez, J. Surralles, M. Castella, G. Guenechea, J. C. Segovia, H. Hanenberg, et al. 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Joenje Molecular cross-talk among chromosome fragility syndromes Genes & Dev., June 15, 2004; 18(12): 1359 - 1370. [Full Text] [PDF] G. Narayan, H. Arias-Pulido, S. V. Nandula, K. Basso, D. D. Sugirtharaj, H. Vargas, M. Mansukhani, J. Villella, L. Meyer, A. Schneider, et al. Promoter Hypermethylation of FANCF: Disruption of Fanconi Anemia-BRCA Pathway in Cervical Cancer Cancer Res., May 1, 2004; 64(9): 2994 - 2997. [Abstract] [Full Text] [PDF] J. E. Wagner, J. Tolar, O. Levran, T. Scholl, A. Deffenbaugh, J. Satagopan, L. Ben-Porat, K. Mah, S. D. Batish, D. I. Kutler, et al. Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia Blood, April 15, 2004; 103(8): 3226 - 3229. [Abstract] [Full Text] [PDF] B. Hirsch, A. Shimamura, L. Moreau, S. Baldinger, M. Hag-alshiekh, B. Bostrom, S. Sencer, and A. D. 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[Abstract] [Full Text] [PDF] K. Offit, O. Levran, B. Mullaney, K. Mah, K. Nafa, S. D. Batish, R. Diotti, H. Schneider, A. Deffenbaugh, T. Scholl, et al. Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia J Natl Cancer Inst, October 15, 2003; 95(20): 1548 - 1551. [Abstract] [Full Text] [PDF] M. S. van der Heijden, C. J. Yeo, R. H. Hruban, and S. E. Kern Fanconi Anemia Gene Mutations in Young-onset Pancreatic Cancer Cancer Res., May 15, 2003; 63(10): 2585 - 2588. [Abstract] [Full Text] [PDF] B. P. Alter, M. H. Greene, I. Velazquez, and P. S. Rosenberg Cancer in Fanconi anemia Blood, March 1, 2003; 101(5): 2072 - 2072. [Full Text] [PDF]

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