MSH6 mutation in a family affected by Muir-Torre syndrome
| Autor: | Denisa Kacerovska, Jan Ricar, Michal Michal, Petr Martinek, Katerina Cerna, Dmitry V. Kazakov, Petr Grossmann |
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| Rok vydání: | 2012 |
| Předmět: |
Adult
Male congenital hereditary and neonatal diseases and abnormalities Dermatology Biology MLH1 Malignancy Pathology and Forensic Medicine Exon Muir–Torre syndrome medicine Missense mutation Humans Sebaceous Gland Neoplasms neoplasms Germ-Line Mutation Aged Genetics nutritional and metabolic diseases General Medicine Exons Middle Aged medicine.disease digestive system diseases Lynch syndrome MSH6 DNA-Binding Proteins Gene Expression Regulation Neoplastic Muir-Torre Syndrome Mutation (genetic algorithm) |
| Zdroj: | The American Journal of dermatopathology. 34(6) |
| ISSN: | 1533-0311 |
| Popis: | Muir-Torre syndrome (MTS), a phenotypic variant of the more common hereditary nonpolyposis colorectal cancer syndrome, or Lynch syndrome, is an autosomal dominantly inherited condition that combines at least one cutaneous sebaceous neoplasm and at least one visceral malignancy. Most patients (~90%) with MTS carry mutations in the MSH2 gene; less than 10% of the cases are associated with a mutation MLH1 gene, and only 3 MTS patients with a pathogenic MSH6 mutation have been previously documented. We report a family affected with MTS in which 3 members (father and 2 sons) were found to harbor a missense mutation c.2633T>C (p.V878A) in exon 4 of the MSH6 gene. |
| Databáze: | OpenAIRE |
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