Article
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting.
Gut - 1 Nov 2008
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 excerpt
BACKGROUND AND AIMS: 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...
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