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Fanconi anemia (FA) is a rare, autosomal recessive, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. Although it is a very rare disorder, the study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of normal bone marrow function and the development of cancer.
Fanconi anemia, complementation group M, also known as FANCM is a human gene. [ 5 ] [ 6 ] It is an emerging target in cancer therapy, in particular cancers with specific genetic deficiencies. [ 7 ] [ 8 ]
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair.
[4] [10] [9] Fanconi anemia occurs when there is a biallelic mutation that inactivates the genes that are in charge of the replication stress associated DNA damage response. [4] Dysfunction of FANC proteins has been associated with a range of conditions, including the rendering of cell hypersensitivity to a type of DNA damage known as DNA ...
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA.
Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. [ 5 ] [ 6 ] This protein delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
Fanconi anemia, complementation group E protein is a protein that in humans is encoded by the FANCE gene. [ 5 ] [ 6 ] [ 7 ] The Fanconi anemia complementation group (FANC) currently includes FANCA , FANCB , FANCC , FANCD1 (also called BRCA2), FANCD2 , FANCE, FANCF , FANCG , and FANCL .
Fanconi anemia group D2 protein is a protein that in humans is ... FANCD2 monoubiquitination is also a potential therapeutic target in the treatment of cancer. [22 ...