Browsing Bergen Open Research Archive by Author "Hovland, Henrikke Nilsen"
Now showing items 1-4 of 4
-
BRCA1 Norway: comparison of classifcation 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 (Journal article; Peer reviewed, 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 BRCA1 variants of unknown significance found in hereditary breast or ovarian cancer families in Norway: A tool for improved diagnosis
Hovland, Henrikke Nilsen (Doctoral thesis, 2023-03-21)Tumorsuppressorgenet BRCA1 speler mange viktige roller for å hindre tumorutvikling, og endringar i BRCA1-genet er ei av hovudårsakene til arveleg bryst- og eggstokk-kreft (HBOC). I artikkel I vart det laga ei oversikt over ... -
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). ... -
Functional characterization of rare variants of SCHAD, a protein involved in unregulated insulin secretion
Hovland, Henrikke Nilsen (Master thesis, 2018-06-26)Congenital Hyperinsulinism of Infancy (CHI) is a group of rare inherited disorders characterized by persistent hypoglycaemia due to inappropriate elevated secretion of insulin from the pancreatic beta cells. CHI can be ...