[7] It is a chromosome instability syndrome characterized by the progressiveness of bone marrow failure and of cancer proneness.
[5] When cross-link is detected, then the ataxia-telangiectasia and RAD3-related protein will mediate the phosphorylation (P) of the FA core complex.
[5] Each of the proteins of the FA core complex are needed for this phosphorylation step except for FANCM.
[5] Studies have also shown that there is a connection between the FA DNA repair pathway and stem cell regulation but it is still unclear.
[5] FANC proteins also play a role in redox signaling and repair of oxidative DNA damages.
[9] Recent studies have dove into the FANC protein, FANCJ, and its enzymatic function along with its roles in repair.
[5] Other studies have shown the correlation between the FANC pathway and multiple other protein post translational modifications from ubiquitin-like families.
[4] A mutation in 13 FANC genes can result in Fanconi anemia (FA), which is a cancer-prone chromosome instability disorder.
[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.