Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?

Hum Genet. 1996 Dec;98(6):747-50. doi: 10.1007/s004390050298.


The Muir-Torre syndrome (MTS) is a rare autosomal-dominant condition characterized by the occurrence of sebaceous skin lesions and internal tumours in a patient. It has been demonstrated that at least a subgroup of MTS exhibits clinical and molecular genetic features of hereditary nonpolyposis colorectal cancer, including microsatellite instability in skin and visceral tumours, because of mutations in DNA mismatch repair genes. We have identified germline mutations in the hMSH2 gene in two unrelated MTS patients ascertained because of their skin tumours. Our results, together with published MTS cases, support the hypothesis that MTS with its characteristic skin lesions is confined to mutations in the hMSH2 gene.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Base Sequence
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Mutational Analysis
  • DNA Repair*
  • DNA-Binding Proteins*
  • Female
  • Humans
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Molecular Sequence Data
  • MutS Homolog 2 Protein
  • Pedigree
  • Proto-Oncogene Proteins / genetics*
  • Sebaceous Gland Neoplasms / genetics*


  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • MSH2 protein, human
  • MutS Homolog 2 Protein