Abstract
Mutations reported to cause Muir-Torre syndrome (MTS) have previously been reported in the mismatch repair genes MLH1 and MSH2 and more recently, in MYH [1]. We report siblings, one of whom has a clinical diagnosis of MTS, who have a pathogenic MSH6 gene mutation. This finding demonstrates that MSH6 gene analysis should be considered in MTS families where no MSH2 or MLH1 gene mutations have been found.
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References
Ponti G, Ponz de Leon M et al (2005) Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations. Clin Genet 68(5):442–447
Muir GG, Bell AY et al (1967) Multiple primary carcinomata of the colon, duodenum, and larynx associated with keratoacanthomata of the face. Brit J Surg 54:191–195
Kruse R, Rutten A et al (1998) Muir-Torre phenotype has a frequency of DNA mismatch-repair-gene mutations similar to that in hereditary nonpolyposis colorectal cancer families defined by the Amsterdam criteria. Am J Hum Genet 63(4):63–70
Mangold E, Pagenstecher C et al (2004) A genotype–phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 41(7):567–572
Ponti G, Ponz de Leon M (2005) Muir-Torre syndrome. Lancet Oncol 6(12):980–987
Ponti G, Losi L et al (2005) Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry. Cancer 103(5):1018–1025
Peltomaki P (2005) Lynch Syndrome Genes. Fam Cancer 4(3):227–232
Lynch HT (1986) Frequency of hereditary nonpolyposis colorectal carcinoma (Lynch syndromes I and II). Gastroenterology 90:486–492
Lynch HT, Lynch PM et al (1981) The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre’s syndrome. Arch Intern Med 141(5):607–611
Kruse R, Lamberti C et al (1996) Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene? Hum Genet 98:747–750
Bapat B, Xia L et al (1996) The genetic basis of Muir-Torre syndrome includes the hMLH1 locus (Letter). Am J Hum Genet 59:736–739
Lucci-Cordisco E, Zito I et al (2003) Hereditary nonpolyposis colorectal cancer and related conditions. Am J Med Genet A 122(4):325–334
Edelmann W, Yang K et al (1997) Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell 91:467–477
Plaschke J, Engel C et al (2004) Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: the German hereditary nonpolyposis colorectal cancer consortium. J Clin Oncol 22(22):4486–4494
Bacher JW et al (2004) Development of a fluorescent multiple assay for detection of MSI-High tumors. Dis Markers 20(4,5):237–250
Umar A, Boland CR et al (2004) Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 96(4):261–268
Liu B, Nicolaides NC et al (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet Jan; 9(1):48–55
Liu T, Stathopoulos P et al (1998) MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility. Eur J Cancer 34:1981
Plaschke J, Kruppa C et al (2000) Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer. Int J Cancer 85(5):606–613
Verma L, Kane MF et al (1999) Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer. J Med Genet 36(9):678–682
Berends MJ, Wu Y et al (2002) Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant. Am J Hum Genet 70:26–37
Mathiak M, Rutten A et al (2002) Loss of DNA mismatch repair proteins in skin tumors from patients with Muir-Torre syndrome and MSH2 or MLH1 germline mutations. Establishment of immunohistochemical analysis as a screening test. Am J Surg Pathol 26(3):338–343
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The authors would like to thank the family involved for their assistance and encouragement to them as they prepared this paper.
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Arnold, A., Payne, S., Fisher, S. et al. An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation. Familial Cancer 6, 317–321 (2007). https://doi.org/10.1007/s10689-007-9119-y
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DOI: https://doi.org/10.1007/s10689-007-9119-y