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.
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Received: 22 July 1996 / Revised: 12 August 1996
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Kruse, R., Lamberti, C., Wang, Y. et al. Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?. Hum Genet 98, 747–750 (1996). https://doi.org/10.1007/s004390050298
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DOI: https://doi.org/10.1007/s004390050298