Chapter

Fanconi Anemia

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International Fanconi Anemia Registry: First Report

  • Arleen D. AuerbachAffiliated withLaboratory for Investigative Dermatology, The Rockefeller University
  • , A. Rogatko
  • , Traute M. Schroeder-KurthAffiliated withInstitute of Human Genetics, University of Heidelberg

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Abstract

Progress has been made in the elucidation of the basic mechanisms that underlie both developmental abnormalities and malignancy through careful studies of heritable diseases that predispose persons to these problems. Fanconi anemia (FA), ataxia-telangiectasia, xeroderma pigmentosum, and Bloom syndrome are a few examples of such rare disorders, which are of interest in their own right but have even more significance because of their relevance to cancer predisposition and the interaction of genetic and environmental factors in cancer risk. Registries for surveillance of cancers have been established for Bloom syndrome (German et al. 1984), ataxia-telangiectasia (Spector et al. 1978) and xeroderma pigmentosum (Lambert 1987). In order to study a large number of FA patients with the full spectrum of the diverse features of the disease, the International Fanconi Anemia Registry (IFAR) was established at The Rockefeller University in 1982. The registry serves as a central repository for clinical, hematologic, and genetic information on FA patients. The large clinical database generated by the IFAR and cellular material stored from IFAR patients and their families provide an important resource which should enable us to better define the disorder.