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 (MS...

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Detalles Bibliográficos
Autores principales: Grindedal, Eli Marie, Aarset, Harald, Bjørnevoll, Inga, Røyset, Elin, Mæhle, Lovise, Stormorken, Astrid, Heramb, Cecilie, Medvik, Heidi, Møller, Pål, Sjursen, Wenche
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4005455/
https://www.ncbi.nlm.nih.gov/pubmed/24790682
http://dx.doi.org/10.1186/1897-4287-12-12

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