Blar i Publikasjoner fra Cristin - St. Olavs hospital på tidsskrift "Hereditary Cancer in Clinical Practice"
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The Norwegian PMS2 founder mutation c.989-1G>T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry
(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 ...