Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence o...

Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome characterized by congenital abnormalities, progressive bone marrow failure, and cancer predisposition. Although patients with FA are candidates for bone marrow transplantation or gene therapy, their phenotypic heterogeneity can delay or obscure diagnosis. The current diagnostic test for FA consists of cytogenetic qua...

The Fanconi anemia (FA)/BRCA pathway consists of fifteen proteins that mediate DNA homologous recombination (HR) and promote chromosomal stability. Here we review the evidence that genetic and epigenetic alterations in BRCA2 (FANCD1), BRIP1 (FANCJ), FANCD2, FANCF, PALB2 (FANCN) and RAD51C (FANCO), render ovarian cells susceptible to malignant transformation. In addition, we discuss the paradoxi...

FAAP20 is an integral component of the Fanconi anemia core complex that mediates the repair of DNA interstrand crosslinks. The ubiquitin-binding capacity of the FAAP20 UBZ is required for recruitment of the Fanconi anemia complex to interstrand DNA crosslink sites and for interaction with the translesion synthesis machinery. Although the UBZ-ubiquitin interaction is thought to be exclusively en...