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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 (BMJ Publishing Group, 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 ...
  • Extra-colonic cancers in Lynch Syndrome 

    Grindedal, Eli Marie (The University of Bergen, 2010-11-12)
    Lynch Syndrome (LS) is the most common of the hereditary colorectal cancer (CRC) syndromes. It is caused by germ-line mutations in one of the four mismatch repair (MMR) genes MLHl, MSH2, MSH6 or PMS2. Mutations in one of ...