Blar i Bergen Open Research Archive på forfatter "Vetti, Hildegunn Høberg"
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Ask Rosa – The making of a digital genetic conversation tool, a chatbot, about hereditary breast and ovarian cancer
Siglen, Elen; Vetti, Hildegunn Høberg; Lunde, Aslaug Beathe Forberg; Hatlebrekke, Thomas Akselberg; Strømsvik, Nina; Hamang, Anniken; Hovland, Sigrid Tronsli; Rettberg, Jill Walker; Steen, Vidar Martin; Bjorvatn, Cathrine (Journal article; Peer reviewed, 2021)Objective: We aimed at developing a pilot version of an app (Rosa) that can perform digital conversations with breast or ovarian cancer patients about genetic BRCA testing, using chatbot technology, to identify best practices ... -
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 ... -
Evaluation of the Rosa Chatbot Providing Genetic Information to Patients at Risk of Hereditary Breast and Ovarian Cancer: Qualitative Interview Study
Siglen, Elen; Vetti, Hildegunn Høberg; Augestad, Mirjam Tonheim; Steen, Vidar Martin; Lunde, Åshild; Bjorvatn, Cathrine (Journal article; Peer reviewed, 2023)Background: Genetic testing has become an integrated part of health care for patients with breast or ovarian cancer, and the increasing demand for genetic testing is accompanied by an increasing need for easy access to ... -
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). ... -
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?
Vetti, Hildegunn Høberg; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Bøe Aaman; Ariansen, Sarah; Hoover, Jacqueline M.; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten (Peer reviewed; Journal article, 2020-03-20)Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to ... -
New procedures for genetic testing and counselling of patients with breast or ovarian cancer
Vetti, Hildegunn Høberg (Doctoral thesis, 2020-05-29)The aim of this PhD project was to evaluate alternative procedures for genetic testing and counselling of patients newly diagnosed with breast or ovarian cancer, in order to meet the expected increasing need of this health ...