Browsing St. Olavs hospital by Journals "Hereditary Cancer in Clinical Practice"
Now showing items 1-2 of 2
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Prevalence of the CHEK2 R95* germline mutation
(Peer reviewed; Journal article, 2016)Background While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; ... -
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 ...