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Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Blood+Rev 2017 ; 31 (3): 93-9 Nephropedia Template TP
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Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia #MMPMID27760710
Mamrak NE; Shimamura A; Howlett NG
Blood Rev 2017[May]; 31 (3): 93-9 PMID27760710show ga
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 33 years. 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.