title: The frequency of Muir-Torre syndrome among Lynch syndrome families.
abstract: Lynch syndrome is the predisposition to visceral malignancies that are associated with deleterious germline mutations in DNA mismatch repair genes, including MLH1, MSH2, MSH6, and PMS2. Muir-Torre syndrome is a variant of Lynch syndrome that includes a predisposition to certain skin tumors. We determined the frequency of Muir-Torre syndrome among 50 Lynch syndrome families that were ascertained from a population-based series of cancer patients who were newly diagnosed with colorectal or endometrial carcinoma. Histories of Muir-Torre syndrome-associated skin tumors were documented during counseling of family members. Muir-Torre syndrome was observed in 14 (28%) of 50 families and in 14 (9.2%) of 152 individuals with Lynch syndrome. Four (44%) of nine families with MLH1 mutations had a member with Muir-Torre syndrome compared with 10 (42%) of 24 families with MSH2 mutations (P = .302). Families who carried the c.942+3A>T MSH2 gene mutation had a higher frequency of Muir-Torre syndrome than families who carried other mutations in the MSH2 gene (75% vs 25%; P = .026). Muir-Torre syndrome was not found in families with mutations in the MSH6 or PMS2 genes. Our results suggest that Muir-Torre syndrome is simply a variant of Lynch syndrome. Screening for Muir-Torre syndrome-associated skin lesions among patients with Lynch syndrome is recommended.
authors.affiliation: Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University-Columbus, OH, USA.
authors.forename: Christopher D
authors.initials: CD
authors.lastname: South
authors.forename: Heather
authors.initials: H
authors.lastname: Hampel
authors.forename: Ilene
authors.initials: I
authors.lastname: Comeras
authors.forename: Judith A
authors.initials: JA
authors.lastname: Westman
authors.forename: Wendy L
authors.initials: WL
authors.lastname: Frankel
authors.forename: Albert
authors.initials: A
authors.lastname: de la Chapelle
mesh_terms: D015331:Cohort Studies; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D053843:DNA Mismatch Repair; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D015994:Incidence; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
chemical_list: C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein