International Fanconi Anemia Registry: First Report

  • Arleen D. Auerbach
  • A. Rogatko
  • Traute M. Schroeder-Kurth


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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Alter BP, Potter NU (1983) Long term outcome in Fanconi’s anemia: description of 26 cases and review of the literature. In: German J (ed) Chromosome mutation and neoplasia. Liss, New York, pp 43–62Google Scholar
  2. Auerbach AD, Wolman SR (1976) Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens. Nature 261: 494–496PubMedCrossRefGoogle Scholar
  3. Auerbach AD, Wolman SR (1978) Carcinogen-induced chromosome breakage in Fanconi’s anaemia heterozygous cells. Nature 271: 69–71PubMedCrossRefGoogle Scholar
  4. Auerbach AD, Adler B, Chaganti RSK (1981) Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 67: 128–135PubMedGoogle Scholar
  5. Auerbach AD, Sagi M, Adler B (1985) Fanconi anemia: prenatal diagnosis in 30 fetuses at risk. Pediatrics 76: 794–800PubMedGoogle Scholar
  6. Auerbach AD, Zhang M, Ghosh R, Pergament E, Verlinksy Y, Nicholas H, Boue J (1986) Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia. Hum Genet 73: 86–88PubMedCrossRefGoogle Scholar
  7. Auerbach AD, Rogatko A, Schroeder-Kurth TM (1989) International Fanconi Anemia Registry: relation of clinical symptoms to diepoxybutane sensitivity. Blood 73: 391–396PubMedGoogle Scholar
  8. Cervenka J, Arthur D, Yasis C (1981) Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia. Pediatrics 67: 119–127PubMedGoogle Scholar
  9. Dallapiccola B, Alimena G, Brinchi V, Isacchi G, Gandini E (1980) Absence of chromosome heterogeneity between classical Fanconi’s anemia and the Estren-Dameshek type. Cancer Genet Cytogenet 2: 349–360CrossRefGoogle Scholar
  10. Dixon WD, Brown MB, Engleman L, Frane JW, Hill MA, Hennrich RI, Toporek JD (eds) (1981) BMDP statistical software 1981. University of California Press, Los AngelesGoogle Scholar
  11. Duckworth-Rysiecki G, Hulten M, Mann J, Taylor AMR (1984) Clinical and cytogenetic diversity in Fanconi’s anaemia. J Med Genet 21: 197–203PubMedCrossRefGoogle Scholar
  12. Estren S, Dameshek W (1947) Familial hypoplastic anemia of childhood. Report of eight cases in two families with beneficial effect of splenectomy in one case. Am J Dis Child 73: 671–687PubMedGoogle Scholar
  13. Fanconi G (1967) Familial constitutional panmyelocytopathy, Fanconi’s anemia (FA). I. Clinical aspects. Semin Hematol 4: 233–240PubMedGoogle Scholar
  14. German J, Bloom D, Passarge E (1984) Bloom’s syndrome XI. Progress report for 1983. Clin Genet 25: 166–174PubMedCrossRefGoogle Scholar
  15. German J, Schonberg S, Caskie S, Warburton D, Falk C, Ray JH (1987) A test for Fanconi’s anemia. Blood 69: 1637–1641PubMedGoogle Scholar
  16. Glanz A, Fräser FC (1982) Spectrum of anomalies in Fanconi anaemia, J Med Genet 19: 412–416PubMedCrossRefGoogle Scholar
  17. Lambert WC (1987) Genetic diseases associated with DNA and chromosomal instability. Dermatol Clin 5: 85–108PubMedGoogle Scholar
  18. Morton NE (1959) Genetic tests under incomplete ascertainment. Am J Hum Genet 11: 1–16PubMedGoogle Scholar
  19. Rogatko A, Auerbach AD (1988) Segregation analysis with uncertain ascertainment: application to Fanconi anemia. Am J Hum Genet 42: 889–897PubMedGoogle Scholar
  20. Rogatko A, Pereira CAB, Frota-Pessoa O (1986) A Bayesian method for the estimation of penetrance: application to mandibulofacial and frontonasal dysostoses. Am J Med Genet 24: 231–246PubMedCrossRefGoogle Scholar
  21. Sasaki MS, Tonomura A (1973) A high susceptibility of Fanconi’s anemia to chromosome breakage by DNA cross linking agents. Cancer Res 33: 1829–1836PubMedGoogle Scholar
  22. Schroeder TM, Tilgen D, Krüger J, Vogel F (1976) Formal genetics of Fanconi’s anemia. Hum Genet 32: 257–288PubMedCrossRefGoogle Scholar
  23. Spector BD, Perry GS, Kersey JH (1978) Genetically determined immunodeficiency disease (GDID) and malignancy. Report from the Immunodeficiency-Cancer Registry. Clin Immunol Immunopathol 11: 12–29PubMedCrossRefGoogle Scholar
  24. Swift M (1971) Fanconi’s anaemia in the genetics of neoplasia. Nature 230: 370–373PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Arleen D. Auerbach
    • 1
  • A. Rogatko
  • Traute M. Schroeder-Kurth
    • 2
  1. 1.Laboratory for Investigative DermatologyThe Rockefeller UniversityNew YorkUSA
  2. 2.Institute of Human GeneticsUniversity of HeidelbergHeidelbergWest Germany

Personalised recommendations