Browsing NTNU Open by Author "Haukanes, Bjørn Ivar"

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    • BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories 

      Hovland, Henrikke Nilsen; Al-Adhami, Rafal; Ariansen, Sarah Louise; Van Ghelue, Marijke; Sjursen, Wenche; Anfinsen, Sigrid Lima; Bolstad, Marte; Berger, Amund Holte; Vetti, Hildegunn Høberg; Knappskog, Per Morten; Haukanes, Bjørn Ivar; Aukrust, Ingvild; Ognedal, Elisabet (Peer reviewed; Journal article, 2022)
      Pathogenic germline variants in Breast cancer susceptibility gene 1 (BRCA1) predispose carriers to hereditary breast and ovarian cancer (HBOC). Through genetic testing of patients with suspected HBOC an increasing number ...

    • 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 (Peer reviewed; Journal article, 2023)
      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). ...

    • PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants 

      Sjursen, Wenche; Hyldebrandt, Hanne Kjensli; Lavik, Liss Ane; Haukanes, Bjørn Ivar; Ariansen, Sarah Louise; Briskemyr, Siri; Sylvander, Anna Elisabeth; Haavind, Marianne Tveit; Olsen, Maren Fridtjofsen; Røyset, Elin Synnøve; Vetti, Hildegunn Høberg; Stormorken, Astrid T.; Grindedal, Eli Marie (Journal article; Peer reviewed, 2024)
      Background: In Norway, we have offered testing of PMS2 since 2006, and have a large national cohort of carriers. The aim of this study was to describe all PMS2 variants identified, and to describe frequency, spectrum and ...