The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry

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 to examine the sensitivity of IHC and microsatellite instability-analysis (MSI...

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Hauptverfasser:	Grindedal, Eli Marie, Aarset, Harald, Bjørnevoll, Inga, Røyset, Elin Synnøve, Mæhle, Lovise Olaug, Stormorken, Astrid T, Heramb, Cecilie, Medvik, Heidi, Møller, Pål, Sjursen, Wenche
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Sprache:	eng
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