There is abundant evidence published associating the FANCC gene with Fanconi anemia complementation group C, since the gene-disease relationship was first proposed by Gavish et al. (1992). Multiple case level studies have been performed with FA patients that have variants in the FANCC gene. Eight of the FA proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, and FANCM) are part of a nuclear multiprotein core complex which triggers activating monoubiquitination of the FANCD2 in the FA/BRCA DNA repair pathway. Multiple Fancc deficient mouse models have been established to show consistent phenotypes with FA patients including impaired fertility, chromosome breakage and cross linker sensitivity, and spontaneous hematologic sequelae. All of these types of evidence are consistent with a definitive relationship between the FANCC gene and Fanconi anemia complementation group C.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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