• Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions 

      Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg; Ariansen, Sarah Louise; Sjursen, Wenche; Van Ghelue, Marijke; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal (Journal article; Peer reviewed, 2023-01-19)
      The BRCA1 protein is implicated in numerous important cellular processes to prevent genomic instability and tumorigenesis, and pathogenic germline variants predispose carriers to hereditary breast and ovarian cancer (HBOC). ...