Blar i St. Olavs hospital på tidsskrift "Hereditary Cancer in Clinical Practice"

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    • Prevalence of the CHEK2 R95* germline mutation 

      Knappskog, Stian; Leirvaag, Beryl; Gansmo, Liv Beathe; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars Johan; Lønning, Per Eystein (Peer reviewed; Journal article, 2016)
      Background While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; ...

    • The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry 

      Grindedal, Eli Marie; Aarset, Harald; Bjørnevoll, Inga; Røyset, Elin Synnøve; Mæhle, Lovise Olaug; Stormorken, Astrid T.; Heramb, Cecilie; Medvik, Heidi; Møller, Pål; Sjursen, Wenche (Journal article; Peer reviewed, 2014)
      Background Using immunohistochemistry (IHC) to select cases for mismatch repair (MMR) genetic testing, we failed to identify a large kindred with the deleterious PMS2 mutation c.989-1G > T. The purpose of the study was ...