Blar i forfatter "Grindedal, Eli Marie"

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    • APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis 

      Stormorken, Astrid T.; Berg, Thomas; Norum, Ole-Jacob Anderssen; Hølmebakk, Toto; Åberg, Kristin; Steigen, Sonja Eriksson; Grindedal, Eli Marie (Journal article; Tidsskriftartikkel; Peer reviewed, 2018-01-24)
      Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas ...

    • 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 ...