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.
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Acknowledgements
We are grateful for the support of the family in endorsing publication of their case. We are grateful for advice and support from Mr Roger Mountford Head of the Molecular Genetics Laboratory, Liverpool Women’s Hospital NHS Foundation Trust and the help given by this lab in on-going DNA testing of members of this family.
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Murphy, H.R., Armstrong, R., Cairns, D. et al. Muir-Torre Syndrome: expanding the genotype and phenotype—a further family with a MSH6 mutation. Familial Cancer 7, 255–257 (2008). https://doi.org/10.1007/s10689-008-9183-y
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DOI: https://doi.org/10.1007/s10689-008-9183-y