Browsing NTNU Open by Author "Stormorken, Astrid T."
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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 ...