• 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 ...