The Fanconi anemia/BRCA (FA/BRCA) pathway is a DNA repair pathway that is required for excision of DNA interstrand cross-links. The 17 known FA proteins, along with several FA-associated proteins (FAAPs), cooperate in this pathway to detect, unhook, and excise DNA cross-links and to subsequently repair the double-strand breaks generated in the process. In the current study, we identified a patient with FA with a point mutation in
Jenny Xie, Hyungjin Kim, Lisa A. Moreau, Shannon Puhalla, Judy Garber, Muthana Al Abo, Shunichi Takeda, Alan D. D’Andrea
The SUMO E3 ligase PIAS1 mediates FANCA SUMOylation at K921.