• Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients 

      Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Hansen, Geir Åsmund Myge; Skarsfjord, Siri; Jonsrud, Christoffer; Ingebrigtsen, Monica; Strømsvik, Nina; Van Ghelue, Marijke (Journal article; Tidsskriftartikkel; Peer reviewed, 2019-12-27)
      Families with breast and ovarian cancer are often tested for disease associated sequence variants in <i>BRCA1</i> and <i>BRCA2</i>. Pathogenic sequence variants (PVs) in these two genes are known to increase breast and ovarian cancer risks in females. However, in most families no PVs are detected in these two genes. Currently, several studies have identified other genes involved in hereditary breast ...
    • “It was an important part of my treatment”: a qualitative study of Norwegian breast Cancer patients’ experiences with mainstreamed genetic testing 

      Strømsvik, Nina; Olsson, Pernilla Marie A.; Gravdehaug, Berit; Lurås, Hilde; Schlichting, Ellen; Jørgensen, Kjersti; Wangensteen, Teresia; Vamre, Tone; Heramb, Cecilie; Mæhle, Lovise Olaug; Grindedal, Eli Marie (Journal article; Tidsskriftartikkel; Peer reviewed, 2022-02-05)
      Background - In South-Eastern Norway, genetic testing for BRCA1 and BRCA2 is offered to breast cancer patients by their treating surgeon or oncologist. Genetic counselling from a geneticist or a genetic counsellor is offered only to those who test positive for a pathogenic variant or have a family history of cancer. This practice is termed “mainstreamed genetic testing”. The aim of this study was ...