[Pathogenesis of Fanconi anemia: FA-BRCA network -- review].
Fanconi anemia (FA) is a rare genetic disease with both autosomal and X-linked inheritance, characterized by genomic instability. The cells from individuals with FA are highly sensitive to DNA-crosslinking drugs, such as mitomycin C (MMC), diepoxybutane (DEB) and so on. Now at least 13 genes (FA-A, B, C, D1, D2, E, F, G, I, J, L, M, N) have been identified, whose products participate in a DNA damage-response network involving breast cancer susceptibility gene products, BRCA1 and BRCA2. The impaired DNA repair due to mutations in FA genes is thought to be one of the main pathogenesis of FA, also closely related to the development of some cancers. In this review, the advances of study about FA-BRCA network are summarized.
Li
Yan-Shan
YS
Department of Pediatrics, Institute of Hematology & Blood Disease Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.
Zhu
Xiao-Fan
XF
D004249:DNA Damage; D004260:DNA Repair; D005199:Fanconi Anemia / Q000235:genetics / Q000473:pathology*; D024522:Genes, BRCA2; D006801:Humans