MSH6 mutation in Muir-Torre syndrome: Could this be a rare finding?

British Journal of Dermatology

Volumn 156, Issue 1, 2007, Pages 158-162

  Mangold, E ^a   Rahner, N ^a   Friedrichs, N ^a   Buettner, R ^a   Pagenstecher, C ^a   Aretz, S ^a   Friedl, W ^a   Ruzicka, T ^c   Propping, P ^a   Rutten A ^d   Kruse, R ^b  

^a UNIVERSITY OF BONN   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^d Dermatopathologische Gemeinschaftspraxis   (Germany)

Author keywords

Hereditary nonpolyposis colorectal cancer; Lynch syndrome; MLH1; MSH2; MSH6; Muir Torre syndrome

Indexed keywords

GENOMIC DNA;

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DNA EXTRACTION; FAMILY HISTORY; GENE; GENE MUTATION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; MLH1 GENE; MSH2 GENE; MSH6 GENE; MUIR TORRE SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEBACEOUS GLAND TUMOR; SEQUENCE ANALYSIS; SYMPTOM;

ADULT; AGED; COLORECTAL NEOPLASMS; DNA MISMATCH REPAIR; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; SEBACEOUS GLAND NEOPLASMS; SYNDROME;

EID: 33845536020     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07607.x     Document Type: Article

References (14)

1. Cohen PR, Kohn SR, Davis DA, Kurzrock R. Muir-Torre syndrome. Dermatol Clin 1995; 13:79-89.
2. Schwartz RA, Torre DP. The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol 1995; 33:90-104.
3. Kruse R, Rütten A, Lamberti C et al. 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 1998; 63:63-70.
4. Mangold E, Pagenstecher C, Leister M et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome. J Med Genet 2004; 41:567-72.
5. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 1999; 116:1453-6.
6. Umar A, Boland CR, Terdiman JP et al. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96:261-8.
7. Lynch HT, Boland CR, Gong G et al. Phenotypic and genotypic heterogeneity in the Lynch syndrome: diagnostic, surveillance and management implications. Eur J Med Genet 2006; 14:390-402.
8. Rutten A, Burgdorf W, Hugel H et al. Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. Am J Dermatopathol 1999; 21:405-13.
9. Mathiak M, Rütten A, Mangold E et al. 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 2002; 26:338-43.
10. Mangold E, Pagenstecher C, Friedl W et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer 2005; 116:692-702.
11. Kariola R, Hampel H, Frankel WL et al. MSH6 missense mutations are often associated with no or low cancer susceptibility. Br J Cancer 2004; 91:1287-92.
12. Plaschke J, Engel C, Kruger S et al. 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 2004; 22:4486-94.
13. Hampel H, Frankel W, Martin E et al. Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). N Engl J Med 2005; 352:1851-60.
14. Kruse R, Rütten A, Schweiger N et al. Frequency of microsatellite instability in unselected sebaceous gland neoplasias and hyperplasias. J Invest Dermatol 2003; 120:858-64.