Hildegunn Høberg Vetti

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CRIStin besøk profil

• Leder (1)

  European collaboration on genetic tumour risk syndromes
  2023, European Journal of Medical Genetics

• Vitenskapelig artikkel (19)

  Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions
  2023, Genes

  Validation and clinical application of transactivation assays for RUNX1 variant classification
  2022, Blood Advances

  BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories
  2022, Familial Cancer

  Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe
  2021, European Journal of Medical Genetics

  Ask Rosa – The making of a digital genetic conversation tool, a chatbot, about hereditary breast and ovarian cancer
  2021, Patient Education and Counseling

  The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?
  2020, European Journal of Human Genetics

  Mutational signature analysis reveals NTHL1 deficiency to cause a multi-tumor phenotype
  2019, Cancer Cell

  Cancer-related distress in unselected women with newly diagnosed breast or ovarian cancer undergoing BRCA1/2 testing without pretest genetic counseling
  2018, Acta Oncologica

  White blood cell BRCA1 promoter methylation status and ovarian cancer risk
  2018, Annals of Internal Medicine

  Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing
  2017, European Journal of Human Genetics

  BRCA testing by single-molecule molecular inversion probes
  2017, Clinical Chemistry

  Anxiety and depression symptoms among women attending group-based patient education courses for hereditary breast and ovarian cancer
  2017, Hereditary Cancer in Clinical Practice

  Identifying needs: a qualitative study of women’s experiences regarding rapid genetic testing for hereditary breast and ovarian cancer in the DNA BONus Study
  2016, Journal of Genetic Counseling

  BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study
  2016, European Journal of Human Genetics

  Risk reducing mastectomy, breast reconstruction and patient satisfaction in Norwegian BRCA1/2 mutation carriers
  2014, Breast

  Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
  2013, Journal of Medical Genetics

  Er farmakogenetisk CYP2D6-testing nyttig?
  2010, Tidsskrift for Den norske legeforening

  Er formakogenetisk CYP2D6-testing nyttig?
  2010, Tidsskrift for Den norske legeforening

  A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria
  2009, Molecular Genetics and Metabolism

• Poster (2)

  Ask the Chatbot Rosa - A Digital Genetic Conversation Tool about Hereditary Breast and Ovarian Cancer
  2021

  Genetic testing at the time of diagnosis - Women's experiences when offered genetic testing immidiately after receiving a diagnosis of breast- or ovarian cancer.
  2016

• Populærvitenskapelig artikkel (2)

  Lærings- og mestringskurs for kvinner med påvist mutasjon i BRCA1- eller BRCA2-genet
  2020, BestPractice

  NTHL1-mutasjoner gir ikke bare polypose
  2019, Best Practice Gastroenterology