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- Title
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
- Authors
Ramsoekh, D; Wagner, A; van Leerdam, M E; Dinjens, W N M; Steyerberg, E W; Halley, D J J; Kuipers, E J; Dooijes, D
- Abstract
In Lynch syndrome, the clinical phenotype in MSH6 mutation families differs from that in MLH1 and MSH2 families. Therefore, MSH6 mutation families are less likely to fulfil diagnostic criteria such as the Amsterdam II criteria (AC II) and the revised Bethesda guidelines (rBG), and will be underdiagnosed. The aim of the present study was to evaluate the contribution of MSH6 gene mutations in families that were analysed for Lynch syndrome in a diagnostic setting.
- Publication
Gut, 2008, Vol 57, Issue 11, p1539
- ISSN
1468-3288
- Publication type
Journal Article
- DOI
10.1136/gut.2008.156695