Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.
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.
Murphy
H R
HR
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
Armstrong
R
R
Cairns
D
D
Greenhalgh
K L
KL
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D018266:Adenocarcinoma, Sebaceous / Q000175:diagnosis / Q000235:genetics; D053843:DNA Mismatch Repair; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000175:diagnosis / Q000235:genetics*; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012307:Risk Factors
D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein