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Review
. 2003 Jan;40(1):1-10.
doi: 10.1136/jmg.40.1.1.

Fanconi anaemia

M D Tischkowitz  1 , S V Hodgson
Affiliations
Review

Fanconi anaemia

M D Tischkowitz et al. J Med Genet. 2003 Jan.

Abstract

Fanconi anaemia (FA) is an autosomal recessive disease characterised by congenital abnormalities, defective haemopoiesis, and a high risk of developing acute myeloid leukaemia and certain solid tumours. Chromosomal instability, especially on exposure to alkylating agents, may be shown in affected subjects and is the basis for a diagnostic test. FA can be caused by mutations in at least seven different genes. Interaction pathways have been established, both between the FA proteins and other proteins involved in DNA damage repair, such as ATM, BRCA1 and BRCA2, thereby providing a link with other disorders in which defective DNA damage repair is a feature. This review summarises the clinical features of FA and the natural history of the disease, discusses diagnosis and management, and puts the recent molecular advances into the context of the cellular and clinical FA phenotype.

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References

    1. Cytogenet Cell Genet. 2001;93(3-4):203-6 - PubMed
    1. Hum Mol Genet. 2002 Feb 1;11(3):273-81 - PubMed
    1. Hum Mol Genet. 2002 Feb 15;11(4):439-44 - PubMed
    1. Proc Natl Acad Sci U S A. 2001 May 8;98(10):5734-9 - PubMed
    1. Br J Haematol. 1991 Mar;77(3):410-8 - PubMed

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