Abstract：
: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. 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.
journal_name
Blood Revjournal_title
Blood reviewsauthors
Mamrak NE,Shimamura A,Howlett NGdoi
10.1016/j.blre.2016.10.002subject
Has Abstractpub_date
2017-05-01 00:00:00pages
93-99issue
3eissn
0268-960Xissn
1532-1681pii
S0268-960X(16)30054-6journal_volume
31pub_type
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