MSH6 mutation in a family affected by Muir-Torre syndrome.
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.
Sikl's Department of Pathology, Charles University, Medical Faculty Hospital, Pilsen, Czech Republic.
Denisa
D
Kacerovska
Katerina
K
Cerna
Petr
P
Martinek
Petr
P
Grossmann
Michal
M
Michal
Jan
J
Ricar
Dmitry V
DV
Kazakov
D000328:Adult; D000368:Aged; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D055653:Muir-Torre Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012626:Sebaceous Gland Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
D004268:DNA-Binding Proteins; C094443:G-T mismatch-binding protein