Blar i Faculty of Medicine på forfatter "Ariansen, Sarah"

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    • Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers 

      Sjursen, Wenche; Haukanes, Bjørn Ivar; Grindedal, Eli Marie; Aarset, Harald; Stormorken, Astrid Tenden; Engebretsen, Lars Fredrik; Jonsrud, Christoffer; Bjørnevoll, Inga; Andresen, Per Arne; Ariansen, Sarah; Lavik, Liss Anne S.; Gilde, Bodil; Bowitz-Lothe, Inger Marie; Mæhle, Lovise; Møller, Pål (Peer reviewed; Journal article, 2010-09)
      Background: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families ...

    • The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance? 

      Vetti, Hildegunn Høberg; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Bøe Aaman; Ariansen, Sarah; Hoover, Jacqueline M.; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten (Peer reviewed; Journal article, 2020-03-20)
      Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to ...