In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>Cp.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.
In this study, we show segregation of the putative pathogenic MSH6 missense mutation c.1346T>Cp.Leu449Pro with microsatellite instability-high Lynch syndrome-related tumours lacking MSH6 expression in a large 17th century pedigree.
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.