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Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences
2020
Genes
Fanconi anemia (FA), a chromosomal instability syndrome, is caused by inherited pathogenic variants in any of 22 FANC genes, which cooperate in the FA/BRCA pathway. This pathway regulates the repair of DNA interstrand crosslinks (ICLs) through homologous recombination. In FA proper repair of ICLs is impaired and accumulation of toxic DNA double strand breaks occurs. To repair this type of DNA damage, FA cells activate alternative error-prone DNA repair pathways, which may lead to the formation
doi:10.3390/genes11121528
pmid:33371494
pmcid:PMC7767525
fatcat:fxbqmc75bnfznfwgfk3v3ezf34