Functional Analyses of Rare Germline Missense <i>BRCA1</i> Variants Located within and outside Protein Domains with Known Functions.

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作者： Henrikke Nilsen,Hovland ^[1] ; Eunice Kabanyana,Mchaina ^[2] ; Hildegunn,Høberg-Vetti ^[3] ; Sarah Louise,Ariansen ^[1] ; Wenche,Sjursen ^[2] ; Marijke,Van Ghelue ^[1] ; Bjørn Ivar,Haukanes ^[2] ; Per Morten,Knappskog ^[4] ; Ingvild,Aukrust ^[5] ; Elisabet,Ognedal ^[6]

作者单位： Western Norway Familial Cancer Center, Haukeland University Hospital, 5021 Bergen, Norway. ^[1] Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway. ^[2] Department of Clinical Science, University of Bergen, 5021 Bergen, Norway. ^[3] Faculty of Health Studies, VID Specialized University, 5009 Bergen, Norway. ^[4] Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway. ^[5] Department of Medical Genetics, St. Olavs University Hospital, 7006 Trondheim, Norway. ^[6] Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology, 7491 Trondheim, Norway. ^[7] Department of Medical Genetics, University Hospital of North Norway, 9038 Tromsø, Norway. ^[8] Department of Clinical Science, UiT The Arctic University of Norway, 9019 Tromsø, Norway. ^[9]

关键词 BRCA1 VUS breast functional assays hereditary cancer ovarian variants of uncertain significance

主题词女(雌)性(Female);人类(Humans);BRCA1蛋白质(BRCA1 Protein);生殖细胞(Germ Cells);突变, 误义(Mutation, Missense);卵巢肿瘤(Ovarian Neoplasms);乳腺肿瘤(Breast Neoplasms)

DOI 10.3390/genes14020262

PMID 36833189

发布时间 2023-03-06

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