Literature DB >> 18236172

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

H R Murphy1, R Armstrong, D Cairns, K L Greenhalgh.   

Abstract

Muir-Torre Syndrome (MTS) is a phenotypic variant of HNPCC traditionally associated with mutations in the mismatch repair genes MLH1 and MSH2. We draw attention to recent reports of MTS found in association with a constitutional MSH6 mutation and describe a further MTS family with a MSH6 mutation, in whom a preponderance of extra-colonic tumours was found.

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Year:  2008        PMID： 18236172     DOI： 10.1007/s10689-008-9183-y

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


  13 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.  MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?

Authors:  E Mangold; N Rahner; N Friedrichs; R Buettner; C Pagenstecher; S Aretz; W Friedl; T Ruzicka; P Propping; A Rütten; R Kruse
Journal:  Br J Dermatol       Date:  2007-01       Impact factor: 9.302

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

Authors:  Angela Arnold; Stewart Payne; Samantha Fisher; Diane Fricker; Judith Soloway; Susan M White; Marco Novelli; Kylie MacDonald; James Mackay; Richard Groves; Natalie Canham
Journal:  Fam Cancer       Date:  2007-02-24       Impact factor: 2.375

4.  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

5.  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

6.  Hereditary nonpolyposis colorectal cancer with gynecologic malignancies: report of two families in Taiwan.

Authors:  C H Chen; R L Huang; M S Yu; L J Wong; T F Chao; T Y Chu
Journal:  J Formos Med Assoc       Date:  2001-04       Impact factor: 3.282

7.  Muir-Torre syndrome: Diagnostic and screening guidelines.

Authors:  Brad Jones; Carol Oh; Elisabeth Mangold; Conleth A Egan
Journal:  Australas J Dermatol       Date:  2006-11       Impact factor: 2.875

8.  Muir-Torre syndrome in patients with hematologic malignancies.

Authors:  P R Cohen
Journal:  Am J Hematol       Date:  1992-05       Impact factor: 10.047

9.  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

10.  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
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  6 in total

1.  Skin lesions with Lynch syndrome could represent Muir-Torre syndrome.

Authors:  Nauman Siddiqui; Zeeshan Tariq; Colette Gaba; Danae Hamouda; Ali Nawras; Shahnaz Ul Rehman; Iman E Mohamed
Journal:  Int J Colorectal Dis       Date:  2014-05-03       Impact factor: 2.571

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.  Extracolonic manifestations of lynch syndrome.

Authors:  Brian J Bansidhar
Journal:  Clin Colon Rectal Surg       Date:  2012-06

Review 5.  Biology of colorectal cancer.

Authors:  Francisco Arvelo; Felipe Sojo; Carlos Cotte
Journal:  Ecancermedicalscience       Date:  2015-04-09

6.  Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels.

Authors:  Katarina Domanska; Christina Carlsson; Pär-Ola Bendahl; Mef Nilbert
Journal:  BMC Med Genet       Date:  2009-03-26       Impact factor: 2.103
  6 in total

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