Browsing NTNU Open by Author "Bjørnevoll, Inga"
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Diagnostic uncertainties, ethical tensions, and accounts of role-responsibilities in genetic counseling communication
Thomassen, Gøril; Sarangi, Srikant Kumar; Bjørnevoll, Inga (Peer reviewed; Journal article, 2020)Diagnostic uncertainties are intricately associated with genomic testing—especially concerning new technologies such as exome sequencing—with test results being either inconclusive or generating secondary findings or showing ... -
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 ... -
Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome
Hansen, Maren; Johansen, Jostein; Sylvander, Anna Elisabeth; Bjørnevoll, Inga; Talseth-Palmer, Bente Anita; Lavik, Liss Ane; Xavier, Alexandre; Engebretsen, Lars Fredri; Scott, Rodney; Drabløs, Finn Sverre; Sjursen, Wenche (Journal article; Peer reviewed, 2017)Background Many families with a high burden of colorectal cancer fulfil the clinical criteria for Lynch Syndrome. However, in about half of these families, no germline mutation in the mismatch repair genes known to be ...