Blar i forfatter "Jarhelle, Elisabeth"

Viser treff 1-4 av 4

    • 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. ...

    • 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 ...

    • A study of possible genetic causes of inherited breast and ovarian cancer in a Norwegian cancer population 

      Jarhelle, Elisabeth (Master thesis; Mastergradsoppgave, 2013-05-15)
      Homologous recombination repair (HRR) is an important repair mechanism, and mutations disrupting the function of this machinery might contribute to cancer formation. Several proteins interact in this mechanism, and the two best known are BRCA1 and BRCA2. Mutations in their corresponding genes BRCA1 and BRCA2 are found in 40% of hereditary breast and ovarian cancer cases. However, there are still ...

    • What are the molecular consequences of germline mutations in breast and ovarian cancer susceptibility genes in a Norwegian breast and ovarian cancer population? 

      Jarhelle, Elisabeth (Doctoral thesis; Doktorgradsavhandling, 2018-06-01)
      It is estimated that 5-10% of breast cancers (BC) and 25% of ovarian cancers (OC) are caused by inherited sequence variants in genes. In the mid 90’s, the two genes BRCA1 and BRCA2 were discovered to be directly associated with increased risk of BC and OC. Molecular screening of these two genes has revealed several disease causing variants as well as variants of unknown clinical significance (VUS). ...