An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation-Reference-Cited by-同舟云学术

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

Published:2007-02-24 Issue:3 Volume:6 Page:317-321
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Cancer Research,Genetics (clinical),Oncology,Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10689-007-9119-y.pdf

Reference22 articles.

1. 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

2. 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

3. 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

4. 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

5. Ponti G, Ponz de Leon M (2005) Muir-Torre syndrome. Lancet Oncol 6(12):980–987

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