Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. We draw attention to recent reports of MTS found in association with a constitutional MSH6 mutation and describe a further MTS family with a MSH6 mutation, in whom a preponderance of extra-colonic tumours was found.
Cheshire and Merseyside Medical Genetics Service, Liverpool Womens Hospital NHS Foundation Trust, Department of Clinical Genetics, Royal Liverpool Children's Hospital, Eaton Road, Liverpool, L12 2AP, UK. hmurphy@liv.ac.uk
