Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Fanconi Anemia

  • Detlev Schindler
  • Daniela Endt
  • Kornelia Neveling
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_2116-6

Synonyms

Definition

Fanconi anemia (FA) is an inherited human disorder clinically characterized by varying combinations of typical congenital anomalies, bone marrow failure, and cancer susceptibility. Cellular features include genomic and chromosomal instability and hypersensitivity to DNA-cross-linking agents. FA is a rare, generally recessive disease with a calculated mean carrier frequency in the USA of 1:181 corresponding to a birth incidence of about 1:130,000. The overall prevalence was estimated to be approximately 1:300,000. Higher frequencies were documented in several founder populations. The median age at diagnosis is 6.5 years. FA must not be confused with De Toni-Debré-Fanconi syndrome, Fanconi’s syndrome, Fanconi-Albertini-Zellweger syndrome, Fanconi-Bickel syndrome, Fanconi-Hegglin...

Keywords

Acute Myelogenous Leukemia Hematopoietic Stem Cell Transplantation Fanconi Anemia Desmoid Tumor Male Breast Cancer 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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See Also

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  11. (2012) Loss of heterozygosity. In: Schwab M (ed) Encyclopedia of cancer, 3rd edn. Springer, Berlin/Heidelberg, pp 2075–2076. doi:10.1007/978-3-642-16483-5_3415Google Scholar
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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Detlev Schindler
    • 1
  • Daniela Endt
    • 1
  • Kornelia Neveling
    • 2
  1. 1.Department of Human GeneticsBiozentrum University of WurzburgWurzburgGermany
  2. 2.Department of Human GeneticsRadboud University Nijmegen Medical CentreNijmegenThe Netherlands