There is abundant evidence published associating the BRCA2 gene with Fanconi anemia complementation group D1, since the gene-disease relationship was first proposed by Howlett et al. (2002). Multiple case level studies have been performed with FA patients that have variants in the BRCA2 gene. BRCA1, BRIP1, RAD51C, PALB2 have also been established as FA genes in the FA/BRCA DNA repair pathway. Multiple Brca2 deficient mouse models have been established to show consistent phenotypes with FA patients including increased overall tumor incidence, decreased survival and hematopoietic dysfunction. Wildtype BRCA2 cDNA restored mitomycin C (MMC) resistance in patient derived fibroblasts. All of these types of evidence are consistent with a definitive relationship between the BRCA2 gene and Fanconi anemia complementation group D1.
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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