Abstract
Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1]. We report siblings, one of whom has a clinical diagnosis of MTS, who have a pathogenic MSH6 gene mutation. This finding demonstrates that MSH6 gene analysis should be considered in MTS families where no MSH2 or MLH1 gene mutations have been found.
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The authors would like to thank the family involved for their assistance and encouragement to them as they prepared this paper.
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Arnold, A., Payne, S., Fisher, S. et al. An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. Familial Cancer 6, 317–321 (2007). https://doi.org/10.1007/s10689-007-9119-y
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DOI: https://doi.org/10.1007/s10689-007-9119-y