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.
MeSH terms
-
Adenocarcinoma / genetics*
-
Adenocarcinoma / pathology
-
Adenoma / genetics*
-
Adenoma / pathology
-
DNA-Binding Proteins / genetics*
-
Genes, Dominant
-
Humans
-
Male
-
Middle Aged
-
MutS Homolog 2 Protein / genetics
-
Mutation*
-
Neoplasms, Multiple Primary / genetics*
-
Rectal Neoplasms / genetics*
-
Rectal Neoplasms / pathology
-
Sebaceous Gland Neoplasms / genetics*
-
Sebaceous Gland Neoplasms / pathology
-
Siblings
-
Syndrome
-
White People
Substances
-
DNA-Binding Proteins
-
G-T mismatch-binding protein
-
MSH2 protein, human
-
MutS Homolog 2 Protein