• Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort 

      Jarhelle, Elisabeth; Stensland, Hilde Monica Frostad Riise; Mæhle, Lovise Olaug; Van Ghelue, Marijke (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-08-05)
      Germline mutations in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. Molecular screening of these two genes in patients with a family history of breast or ovarian cancer has revealed pathogenic variants as well as genetic variants of unknown significance (VUS). These VUS may cause a challenge in the genetic counseling process regarding clinical management of the patient and the family. ...
    • Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers 

      Grindedal, Eli Marie; Heramb, Cecilie; Karsrud, Inga; Ariansen, Sarah Louise; Mæhle, Lovise Olaug; Undlien, Dag Erik; Norum, Jan; Schlichting, Ellen (Journal article; Tidsskriftartikkel; Peer reviewed, 2017-06-21)
      Background: <br> Identification of BRCA mutations in breast cancer (BC) patients influences treatment and survival and may be of importance for their relatives. Testing is often restricted to women fulfilling high-risk criteria. However, there is limited knowledge of the sensitivity of such a strategy, and of the clinical aspects of BC caused by BRCA mutations in less selected BC cohorts. The aim ...
    • “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 ...