An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation
Angela Arnold, Stewart Payne, Samantha Fisher, Diane Fricker, Judith Soloway, Susan M White, Marco Novelli, Kylie MacDonald, James Mackay, Richard Groves, Natalie Canham
FAMILIAL CANCER | SPRINGER | Published : 2007
Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH . We report siblings, one of whom has a clinical diagnosis of MTS, who have a pathogenic MSH6 gene mutation. This finding demonstrates that MSH6 gene analysis should be considered in MTS families where no MSH2 or MLH1 gene mutations have been found.