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Blood. 2014 Oct 30;124(18):2812-9. doi: 10.1182/blood-2014-04-526293. Epub 2014 Sep 18.

Stress and DNA repair biology of the Fanconi anemia pathway.

Author information

1
Department of Molecular Biophysics and Biochemistry.
2
Department of Pediatrics, Department of Pathology, and.
3
Department of Molecular Biophysics and Biochemistry, Department of Therapeutic Radiology, Yale University School of Medicine, New Haven, CT.

Abstract

Fanconi anemia (FA) represents a paradigm of rare genetic diseases, where the quest for cause and cure has led to seminal discoveries in cancer biology. Although a total of 16 FA genes have been identified thus far, the biochemical function of many of the FA proteins remains to be elucidated. FA is rare, yet the fact that 5 FA genes are in fact familial breast cancer genes and FA gene mutations are found frequently in sporadic cancers suggest wider applicability in hematopoiesis and oncology. Establishing the interaction network involving the FA proteins and their associated partners has revealed an intersection of FA with several DNA repair pathways, including homologous recombination, DNA mismatch repair, nucleotide excision repair, and translesion DNA synthesis. Importantly, recent studies have shown a major involvement of the FA pathway in the tolerance of reactive aldehydes. Moreover, despite improved outcomes in stem cell transplantation in the treatment of FA, many challenges remain in patient care.

PMID:
25237197
PMCID:
PMC4314529
DOI:
10.1182/blood-2014-04-526293
[Indexed for MEDLINE]
Free PMC Article
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