PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants
2024, Hereditary Cancer in Clinical Practice
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
2024, Cancers
Evaluation of the Rosa Chatbot Providing Genetic Information to Patients at Risk of Hereditary Breast and Ovarian Cancer: Qualitative Interview Study
2023, Journal of Medical Internet Research (JMIR)
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
2023, Journal of the National Cancer Institute
The PTEN hamartoma tumor syndrome: how oral clinicians may save lives
2023, Clinical Advances in Periodontics
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays
2023, BMC Cancer
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