title: Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?
abstract: 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.
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Kruse
authors.forename: C
authors.initials: C
authors.lastname: Lamberti
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: C
authors.initials: C
authors.lastname: Ruelfs
authors.forename: A
authors.initials: A
authors.lastname: Bruns
authors.forename: C
authors.initials: C
authors.lastname: Esche
authors.forename: P
authors.initials: P
authors.lastname: Lehmann
authors.forename: T
authors.initials: T
authors.lastname: Ruzicka
authors.forename: A
authors.initials: A
authors.lastname: Rütten
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: P
authors.initials: P
authors.lastname: Propping
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004252:DNA Mutational Analysis; D004260:DNA Repair; D004268:DNA-Binding Proteins; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D008969:Molecular Sequence Data; D051718:MutS Homolog 2 Protein; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012626:Sebaceous Gland Neoplasms / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein