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Blood, 15 April 2004, Vol. 103, No. 8, pp. 3226-3229. Prepublished online as a Blood First Edition Paper on January 8, 2004; DOI 10.1182/blood-2003-09-3138. This Article Full Text Full Text (PDF) All Versions of this Article: 2003-09-3138v1 103/8/3226    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 Wagner, J. E. Articles by Auerbach, A. D. Search for Related Content PubMed PubMed Citation Articles by Wagner, J. E. Articles by Auerbach, A. D. Related Collections Neoplasia Red Cells Transplantation Oncogenes and Tumor Suppressors Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia John E. Wagner, Jakub Tolar, Orna Levran, Thomas Scholl, Amie Deffenbaugh, Jaya Satagopan, Leah Ben-Porat, Katherine Mah, Sat Dev Batish, David I. Kutler, Margaret L. MacMillan, Helmut Hanenberg, and Arleen D. Auerbach From the Division of Pediatric Hematology, Oncology, and Blood and Marrow Transplantation, University of Minnesota Medical School, Minneapolis; Laboratory of Human Genetics and Hematology, Rockefeller University, New York, NY; Myriad Genetic Laboratories Inc, Salt Lake City, UT; Department of Epidemiology and Biostatistics, Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, NY; and Department of Pediatric Oncology, Hematology, and Immunology, Heinrich-Heine Universität, Düsseldorf, Germany. The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia (FA) gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified 6 children in 5 kindreds exhibiting the co-occurrence of BRCA2 mutations, FA, and early onset acute leukemia. Leukemia occurred at a median of 2.2 years of age in the BRCA2 patients in contrast to a median onset of 13.4 years in all other FA patients in the International Fanconi Anemia Registry (IFAR; P < .0001). Breast cancer was noted in 4 of the 5 kindreds. Of the 6 children with leukemia, 4 were treated with bone marrow transplantation and 2 are alive at 3 and 9 months after treatment. Our results suggest that BRCA2 testing should be considered in all patients with FA in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age. (Blood. 2004;103:3226-3229) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: S. Seki, M. Ohzeki, A. Uchida, S. Hirano, N. Matsushita, H. Kitao, T. Oda, T. Yamashita, N. Kashihara, A. Tsubahara, et al. A requirement of FancL and FancD2 monoubiquitination in DNA repair Genes Cells, March 1, 2007; 12(3): 299 - 310. 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