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.
MeSH terms
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Adaptor Proteins, Signal Transducing / genetics*
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Adenocarcinoma, Sebaceous / diagnosis
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Adenocarcinoma, Sebaceous / genetics
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DNA Mismatch Repair
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Genotype
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Humans
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Male
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Middle Aged
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Muir-Torre Syndrome / diagnosis
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Muir-Torre Syndrome / genetics*
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MutL Protein Homolog 1
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MutS Homolog 2 Protein / genetics*
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Mutation*
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Nuclear Proteins / genetics*
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Pedigree
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Phenotype
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Risk Factors
Substances
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Adaptor Proteins, Signal Transducing
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MLH1 protein, human
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Nuclear Proteins
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MSH2 protein, human
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MutL Protein Homolog 1
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MutS Homolog 2 Protein