NDLI: Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia

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Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia

Content Provider	Scilit
Author	Mamrak, Nicholas E. Shimamura, Akiko Howlett, Niall G.
Copyright Year	2017
Description	Journal: Blood Reviews Fanconi anemia (FA) is a rare autosomal and X-linked genetic disease characterized by congenital abnormalities, progressive bone marrow failure (BMF), and increased cancer risk during early adulthood. The median lifespan for FA patients is approximately 33years. The proteins encoded by the FA genes function together in the FA-BRCA pathway to repair DNA damage and to maintain genome stability. Within the past two years, five new FA genes have been identified-RAD51/FANCR, BRCA1/FANCS, UBE2T/FANCT, XRCC2/FANCU, and REV7/FANCV-bringing the total number of disease-causing genes to 21. This review summarizes the discovery of these new FA genes and describes how these proteins integrate into the FA-BRCA pathway to maintain genome stability and critically prevent early-onset BMF and cancer.
Related Links	http://europepmc.org/articles/pmc5391297?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391297/pdf
Ending Page	99
Page Count	7
Starting Page	93
ISSN	0268960X
e-ISSN	15321681
DOI	10.1016/j.blre.2016.10.002
Journal	Blood Reviews
Issue Number	3
Volume Number	31
Language	English
Publisher	Elsevier BV
Publisher Date	2017-05-01
Access Restriction	Open
Subject Keyword	Journal: Blood Reviews Research and Experimental Medicine Dna Repair Fanconi Anemia Genome Instability Homologous Recombination
Content Type	Text
Resource Type	Article
Subject	Hematology Oncology

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