Skip Navigation LinksHome > August 2012 - Volume 34 - Issue 6 > MSH6 Mutation in a Family Affected by Muir–Torre Syndrome
American Journal of Dermatopathology:
doi: 10.1097/DAD.0b013e3182446fe2
Extraordinary Case Report

MSH6 Mutation in a Family Affected by Muir–Torre Syndrome

Kacerovska, Denisa MD, PhD*; Cerna, Katerina PhD; Martinek, Petr MSc; Grossmann, Petr RNDr; Michal, Michal MD*,†; Ricar, Jan MD; Kazakov, Dmitry V. MD, PhD*

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Abstract

Abstract: 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.

© 2012 Lippincott Williams & Wilkins, Inc.

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