Browsing by Author "Hovland, Henrikke Nilsen"

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    • Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays 

      Bassi, Nicola; Hovland, Henrikke Nilsen; Rasheed, Kashif; Ghelue, Marijke van (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-04-21)
      Background - Damaging alterations in the BRCA1 gene have been extensively described as one of the main causes of hereditary breast and ovarian cancer (HBOC). BRCA1 alterations can lead to impaired homologous recombination repair (HRR) of double-stranded DNA breaks, a process which involves the RING, BRCT and coiled-coil domains of the BRCA1 protein. In addition, the BRCA1 protein is involved in ...

    • 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; Tidsskriftartikkel; 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). Most functional studies of missense variants in BRCA1 focus on variants located within the Really Interesting New Gene (RING), coiled-coil and BRCA1 C-terminal (BRCT) ...