TY - JOUR AU - Grindedal, Eli Marie AU - Aarset, Harald AU - Bjørnevoll, Inga AU - Røyset, Elin AU - Mæhle, Lovise AU - Stormorken, Astrid AU - Heramb, Cecilie AU - Medvik, Heidi AU - Møller, Pål AU - Sjursen, Wenche PY - 2014 DA - 2014/04/21 TI - The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry JO - Hereditary Cancer in Clinical Practice SP - 12 VL - 12 IS - 1 AB - 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) to identify carriers of the mutation, and to estimate its penetrance and expressions. SN - 1897-4287 UR - https://doi.org/10.1186/1897-4287-12-12 DO - 10.1186/1897-4287-12-12 ID - Grindedal2014 ER -