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Published on: August 15, 2019
Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation
H R Murphy1, R Armstrong, D Cairns
1Cheshire 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
Abstract:
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.
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