Article
Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.
Nature communications - 11 Mar 2023
Tomaszowski Karl-Heinz, Roy Sunetra, Guerrero Carolina, Shukla Poojan, Keshvani Caezaan, Chen Yue, Ott Martina, Wu Xiaogang, Zhang Jianhua, DiNardo Courtney D, Schindler Detlev, Schlacher Katharina
Abstract excerpt
The prototypic cancer-predisposition disease Fanconi Anemia (FA) is identified by biallelic mutations in any one of twenty-three FANC genes. Puzzlingly, inactivation of one Fanc gene alone in mice fails to faithfully model the pleiotropic human disease without additional external stress. Here we find that FA patients frequently display FANC co-mutations. Combining exemplary homozygous hypomorphic Brca2/Fancd1 and...
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