An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

Fam Cancer. 2007;6(3):317-21. doi: 10.1007/s10689-007-9119-y. Epub 2007 Feb 24.

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.

Publication types

  • Case Reports

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