Muir-Torre Syndrome: expanding the genotype and phenotype—a further family with a MSH6 mutation

H R Murphy,K L Greenhalgh,D Cairns,R Armstrong

doi:10.1007/s10689-008-9183-y

Muir-Torre Syndrome: expanding the genotype and phenotype—a further family with a MSH6 mutation

H R Murphy, K L Greenhalgh + Show 2 more

https://doi.org/10.1007/s10689-008-9183-y

Copy DOI

Journal: Familial cancer	Publication Date: Jan 31, 2008
Citations: 26

Affiliation: Liverpool Women's Hospital, University of Liverpool, Liverpool Womens NHS Foundation Trust

#Muir-Torre Syndrome #MSH6 Mutation + Show 8 more

Abstract
Full-Text PDF
Similar Papers

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.

Full Text