Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia
Date of Original Version
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.
Publication Title, e.g., Journal
Mamrak, Nicholas E., Akiko Shimamura, and Niall G. Howlett. "Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia." Blood Reviews 31, 3 (2017): 93-99. doi: 10.1016/j.blre.2016.10.002.