Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia
NE Mamrak, A Shimamura, NG Howlett - Blood reviews, 2017 - Elsevier
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 …
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 …