Výsledky vyhledávání - "Hildegunn Høberg Vetti"

Akademický článek

Evaluation of the Rosa Chatbot Providing Genetic Information to Patients at Risk of Hereditary Breast and Ovarian Cancer: Qualitative Interview Study

Autor: Elen Siglen, Hildegunn Høberg Vetti, Mirjam Augestad, Vidar M Steen, Åshild Lunde, Cathrine Bjorvatn

Publikováno v: Journal of Medical Internet Research, Vol 25, p e46571 (2023)

BackgroundGenetic 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 reliable genetic information for

Externí odkaz: https://doaj.org/article/d35f804186d44e31bf8df3ea9b55bb8c

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

Autor: Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal, Marijke Van Ghelue

Publikováno v: BMC Cancer. 23

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-strande

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ed42c8fde868c24e1262e63e74e95de0
https://doi.org/10.1186/s12885-023-10790-w

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Better than Google: A qualitative study exploring how receiving genetic information via a chatbot is perceived by patients at risk of hereditary breast and ovarian cancer (Preprint)

Autor: Elen Siglen, Hildegunn Høberg Vetti, Mirjam Tonheim Augestad, Vidar Martin Steen, Åshild Lunde, Cathrine Bjorvatn

BACKGROUND Genetic testing has become an integrated part of the health care for patients with breast or ovarian cancer, and the increasing demand of genetic testing is accompanied by an increasing need of easy access to reliable genetic information f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a0184520f9667179303ca890653588da
https://doi.org/10.2196/preprints.46571

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

Autor: Henrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, Sarah Louise Ariansen, Wenche Sjursen, Marijke Van Ghelue, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal

Publikováno v: Genes
Volume 14
Issue 2
Pages: 262

This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/). The BRCA1 protein is implicated in numerous important cellular pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb910324b4c9e7f227f6fa8185b8c119

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

Autor: Henrikke N. Hovland, Rafal Al-Adhami, Sarah Louise Ariansen, Marijke Van Ghelue, Wenche Sjursen, Sigrid Lima, Marte Bolstad, Amund H. Berger, Hildegunn Høberg-Vetti, Per Knappskog, Bjørn Ivar Haukanes, Ingvild Aukrust, Elisabet Ognedal

Publikováno v: Familial Cancer

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 of novel BRCA1 variants are d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a71dc72b00acf403ba0e5c779bc8b05e
https://hdl.handle.net/11250/2935562

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Autor: Nicoline Hoogerbrugge, Cathrine Bjorvatn, Hildegunn Høberg-Vetti, Wenche Listøl, Geir Egil Eide, Marianne Tveit Haavind, Elen Siglen

Publikováno v: Acta Oncologica, 58, 175-181
Acta Oncologica, 58, 2, pp. 175-181

Contains fulltext : 202775.pdf (Publisher’s version ) (Open Access) BACKGROUND: Genetic testing is increasing in patients newly diagnosed with cancer. This study investigated the levels, course and predictors of cancer-related distress, defined as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::285405d06b7d1f072f4a6feab2917b14
https://hdl.handle.net/2066/202775

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Ask Rosa – The making of a digital genetic conversation tool, a chatbot, about hereditary breast and ovarian cancer

Autor: Jill Walker Rettberg, Thomas Akselberg Hatlebrekke, Elen Siglen, Anniken Hamang, Aslaug Beathe Forberg Lunde, Nina Strømsvik, Vidar M. Steen, Sigrid Tronsli Hovland, Hildegunn Høberg Vetti, Cathrine Bjorvatn

Publikováno v: Patient Education and Counseling

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 for future patient-focus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::925b81d7e030272786186b078c0e0a21
https://hdl.handle.net/11250/2838901

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Gastric adenocarcinoma and proximal polyposis of the stomach – a rare form of hereditary gastric cancer

Autor: Tom, Mala, Dag Tidemand, Førland, Hildegunn Høberg, Vetti, Caroline Ursin, Skagemo, Hans Olaf, Johannessen, Egil, Johnson

Publikováno v: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 140(7)

Hereditary ventricular polyposis in the form of gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare condition characterised by a typical distribution of polyps in the stomach and risk of gastric cancer at a young age. Proph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4c6aee0def622cd1bef89a8c31733b7d
https://pubmed.ncbi.nlm.nih.gov/32378851

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The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?

Autor: Adrien Buisson, Tone Bøe Aaman Vamre, Cathrine Bjorvatn, Torunn Fiskerstrand, Sarah Louise Ariansen, Elisabet Ognedal, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Gunnar Houge, Geir Egil Eide, Jacqueline M. Hoover, Per M. Knappskog

Publikováno v: European Journal of Human Genetics

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 determine the pathogenicity of th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a9358e6cbed8d42224653a26e6fa89
https://hdl.handle.net/1956/22137

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