Literature DB >> 17323113

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.

Angela Arnold1, Stewart Payne, Samantha Fisher, Diane Fricker, Judith Soloway, Susan M White, Marco Novelli, Kylie MacDonald, James Mackay, Richard Groves, Natalie Canham.   

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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Year:  2007        PMID： 17323113     DOI： 10.1007/s10689-007-9119-y

Source DB:  PubMed          Journal:  Fam Cancer        ISSN： 1389-9600            Impact factor:   2.375


  22 in total

1.  A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

Authors:  E Mangold; C Pagenstecher; M Leister; M Mathiak; A Rütten; W Friedl; P Propping; T Ruzicka; R Kruse
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

2.  Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

Authors:  G Ponti; M Ponz de Leon; S Maffei; M Pedroni; L Losi; C Di Gregorio; V Gismondi; A Scarselli; P Benatti; B Roncari; S Seidenari; G Pellacani; C Varotti; E Prete; L Varesco; L Roncucci
Journal:  Clin Genet       Date:  2005-11       Impact factor: 4.438

3.  Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer.

Authors:  L Verma; M F Kane; C Brassett; J Schmeits; D G Evans; R D Kolodner; E R Maher
Journal:  J Med Genet       Date:  1999-09       Impact factor: 6.318

4.  Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face.

Authors:  E G Muir; A J Bell; K A Barlow
Journal:  Br J Surg       Date:  1967-03       Impact factor: 6.939

5.  Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.

Authors:  J Plaschke; C Kruppa; R Tischler; T Bocker; S Pistorius; H Dralle; J Rüschoff; H D Saeger; R Fishel; H K Schackert
Journal:  Int J Cancer       Date:  2000-03-01       Impact factor: 7.396

6.  Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Authors:  Maran J W Berends; Ying Wu; Rolf H Sijmons; Rob G J Mensink; Tineke van der Sluis; Jannet M Hordijk-Hos; Elisabeth G E de Vries; Harry Hollema; Arend Karrenbeld; Charles H C M Buys; Ate G J van der Zee; Robert M W Hofstra; Jan H Kleibeuker
Journal:  Am J Hum Genet       Date:  2002-01       Impact factor: 11.025

7.  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.

Authors:  Jens Plaschke; Christoph Engel; Stefan Krüger; Elke Holinski-Feder; Constanze Pagenstecher; Elisabeth Mangold; Gabriela Moeslein; Karsten Schulmann; Johannes Gebert; Magnus von Knebel Doeberitz; Josef Rüschoff; Markus Loeffler; Hans K Schackert
Journal:  J Clin Oncol       Date:  2004-10-13       Impact factor: 44.544

8.  Is the mismatch repair deficient type of Muir-Torre syndrome confined to mutations in the hMSH2 gene?

Authors:  R Kruse; C Lamberti; Y Wang; C Ruelfs; A Bruns; C Esche; P Lehmann; T Ruzicka; A Rütten; W Friedl; P Propping
Journal:  Hum Genet       Date:  1996-12       Impact factor: 4.132

9.  Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.

Authors:  Asad Umar; C Richard Boland; Jonathan P Terdiman; Sapna Syngal; Albert de la Chapelle; Josef Rüschoff; Richard Fishel; Noralane M Lindor; Lawrence J Burgart; Richard Hamelin; Stanley R Hamilton; Robert A Hiatt; Jeremy Jass; Annika Lindblom; Henry T Lynch; Païvi Peltomaki; Scott D Ramsey; Miguel A Rodriguez-Bigas; Hans F A Vasen; Ernest T Hawk; J Carl Barrett; Andrew N Freedman; Sudhir Srivastava
Journal:  J Natl Cancer Inst       Date:  2004-02-18       Impact factor: 13.506

10.  Development of a fluorescent multiplex assay for detection of MSI-High tumors.

Authors:  Jeffery W Bacher; Laura A Flanagan; Regenia L Smalley; Nadine A Nassif; Lawrence J Burgart; Richard B Halberg; Wael M Abdel Megid; Stephen N Thibodeau
Journal:  Dis Markers       Date:  2004       Impact factor: 3.434
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  4 in total

1.  Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.

Authors:  H R Murphy; R Armstrong; D Cairns; K L Greenhalgh
Journal:  Fam Cancer       Date:  2008-01-31       Impact factor: 2.375

2.  Ileocecal adenocarcinoma and ureteral transitional cell carcinoma with multiple sebaceous tumors and keratoacanthomas in a case of muir-torre syndrome.

Authors:  Michael C Lynch; Bryan E Anderson
Journal:  Dermatol Res Pract       Date:  2010-08-15

3.  [Sebaceous gland tumor with a rare gene mutation within a tumor syndrome: Muir-Torre syndrome].

Authors:  E Voigt; F Sommer; K D Geiger; L E Pillunat
Journal:  Ophthalmologe       Date:  2014-04       Impact factor: 1.059

4.  Muir-Torre Syndrome: The Importance of a Detailed Family History.

Authors:  Christopher K H Burris; Maria E Rodriguez; Meisha L Raven; Devasis N Reddy; Yaohui G Xu; Janey L Wiggs; Heather D Potter; Daniel M Albert
Journal:  Case Rep Ophthalmol       Date:  2019-05-23
  4 in total

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