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

• DOI: 10.1007/s004390050298
• Publication Date: 2002-08-25T04:52:48Z
• Authors: Roland Kruse; Christof Lamberti; Yaping Wang; Corina Ruelfs; Alexandra Bruns; Clemens Esche; Percy Lehmann; Thomas Ruzicka; Arno Rütten; Waltraut Friedl; Peter Propping
• Keywords: Adult; Male; 0301 basic medicine; Base Sequence; DNA Repair; DNA Mutational Analysis; Molecular Sequence Data; Middle Aged; Colorectal Neoplasms, Hereditary Nonpolyposis; Pedigree; 3. Good health; DNA-Binding Proteins; 03 medical and health sciences; MutS Homolog 2 Protein; Proto-Oncogene Proteins; Humans; Female; Sebaceous Gland Neoplasms; Aged; Microsatellite Repeats

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.