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    • APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis 

      Stormorken, Astrid T.; Berg, Thomas; Norum, Ole-Jacob Anderssen; Hølmebakk, Toto; Åberg, Kristin; Steigen, Sonja Eriksson; Grindedal, Eli Marie (Journal article; Tidsskriftartikkel; Peer reviewed, 2018-01-24)
      Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas ...
    • Do not be fooled by fancy mutations: inflammatory fibroid polyps can be harbor mutations similar to those found in GIST 

      Bjerkehagen, Bodil; Åberg, Kristin; Steigen, Sonja Eriksson (Journal article; Tidsskriftartikkel; Peer reviewed, 2013)
      Goal. Surgeons that remove a typical polyp from the stomach or small intestine should be reluctant to accept a diagnosis of GIST just because there is a mutation in platelet-derived growth factor receptor alfa (PDGFRA). Background. A subtype of gastric and intestinal polyps is denoted as inflammatory fibroid polyp (IFP). In some of these cases a mutation in PDGFRA is found, leading to the diagnosis ...