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

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

doi:10.1007/s10689-008-9183-y

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

Fam Cancer. 2008;7(3):255-7. doi: 10.1007/s10689-008-9183-y. Epub 2008 Jan 31.

Authors

H R Murphy¹, R Armstrong, D Cairns, K L Greenhalgh

Affiliation

¹ 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

PMID: 18236172
DOI: 10.1007/s10689-008-9183-y

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.

Publication types

Case Reports

MeSH terms

Adaptor Proteins, Signal Transducing / genetics*
Adenocarcinoma, Sebaceous / diagnosis
Adenocarcinoma, Sebaceous / genetics
DNA Mismatch Repair
Genotype
Humans
Male
Middle Aged
Muir-Torre Syndrome / diagnosis
Muir-Torre Syndrome / genetics*
MutL Protein Homolog 1
MutS Homolog 2 Protein / genetics*
Mutation*
Nuclear Proteins / genetics*
Pedigree
Phenotype
Risk Factors

Substances

Adaptor Proteins, Signal Transducing
MLH1 protein, human
Nuclear Proteins
MSH2 protein, human
MutL Protein Homolog 1
MutS Homolog 2 Protein