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Review
. 2013 Dec 13;86(4):491-7.

Fanconi anemia: a signal transduction and DNA repair pathway

Gary M Kupfer  1
Affiliations
Review

Fanconi anemia: a signal transduction and DNA repair pathway

Gary M Kupfer. Yale J Biol Med. .

Abstract

Fanconi anemia (FA) is a fascinating, rare genetic disorder marked by congenital defects, bone marrow failure, and cancer susceptibility. Research in recent years has led to the elucidation of FA as a DNA repair disorder and involved multiple pathways as well as having wide applicability to common cancers, including breast, ovarian, and head and neck. This review will describe the clinical aspects of FA as well as the current state of its molecular pathophysiology. In particular, work from the Kupfer laboratory will be described that demonstrates how the FA pathway interacts with multiple DNA repair pathways, including the mismatch repair system and signal transduction pathway of the DNA damage response.

Keywords: DNA repair; Fanconi anemia; bone marrow failure.

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References

    1. Alter BP. Fanconi’s anemia, transplantation, and cancer. Pediatr Transplant. 2005;9 Suppl 7:81–86. - PubMed
    1. Lowy DR, Gillison ML. A new link between Fanconi anemia and human papillomavirus-associated malignancies. J Natl Cancer Inst. 2003;95(22):1648–1650. - PubMed
    1. Masserot C, Peffault de Latour R, Rocha V, Leblanc T, Rigolet A, Pascal F. et al. Head and neck squamous cell carcinoma in 13 patients with Fanconi anemia after hematopoietic stem cell transplantation. Cancer. 2008;113(12):3315–3322. - PubMed
    1. Bagby GC, Alter BP. Fanconi anemia. Semin Hematol. 2006;43(3):147–156. - PubMed
    1. Tischkowitz M, Dokal I. Fanconi anaemia and leukaemia — clinical and molecular aspects. Br J Haematol. 2004;126(2):176–191. - PubMed

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