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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 (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 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 Social Bookmarking                   What's this? Submitted September 17, 2003 Accepted December 19, 2003 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 Pediatrics, University of Minnesota, Minneapolis, MN, USA Laboratory of Human Genetics and Hematology, The Rockefeller University, New York, NY, USA Myriad Genetic Laboratories, Inc, Salt Lake City, UT, USA Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY, USA Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, NY, USA Department of Pediatric Oncology, Hematology and Immunology, Heinrich-Heine Universitat, Dusseldorf, Germany * Corresponding author; email: wagne002{at}umn.edu. The breast cancer susceptibility gene BRCA2 has recently been identified as identical to the Fanconi anemia gene FANCD1. Here we expand the clinical implications of this discovery. Notably, we identified six 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<0.0001). 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 3 and 9 months after treatment. Our results suggest that BRCA2 testing should be considered in all FA patients in whom the complementation group cannot be defined or in whom leukemia is diagnosed at or before 5 years of age. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? 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