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

@article{Murphy2008MuirTorreSE,
  title={Muir-Torre Syndrome: expanding the genotype and phenotype—a further family with a MSH6 mutation},
  author={Helen R Murphy and Rebecca Armstrong and Diane Cairns and Katriona Greenhalgh},
  journal={Familial Cancer},
  year={2008},
  volume={7},
  pages={255-257}
}
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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