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

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.

Source: Blood Reviews - October 12, 2016 Category: Hematology Authors: Nicholas E. Mamrak, Akiko Shimamura, Niall G. Howlett Tags: Review Source Type: research