FANCG , together with established breast/ovarian predisposition genes BRCA1 and BRCA2 belongs to the Fanconi anemia gene family; however, little is known about cancer predisposition in carriers of FANCG germline alterations. Here we demonstrate that these individuals does not have increased breast and ovarian cancer risk, because the frequency of FANCG pathogenic variants among cancer patients are not different from that in controls, the tumors in FANCG carriers showed no loss‐of‐heterozygozity of wild type allele, and functional in vitro analysis found that any tested rare missense variant impaired FANCG capacity in DNA repair.
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【저자키워드】 Breast cancer, ovarian cancer, functional analysis, Fanconi anemia complementation group G, germline genetic testing, hereditary tumors,
【저자키워드】 Breast cancer, ovarian cancer, functional analysis, Fanconi anemia complementation group G, germline genetic testing, hereditary tumors,