ArticleFamilial cancer2007
An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.
Article in Familial cancer, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 29 citations in OpenAlex.
- [Sebaceous gland tumor with a rare gene mutation within a tumor syndrome: Muir-Torre syndrome].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2014Article
- Ileocecal adenocarcinoma and ureteral transitional cell carcinoma with multiple sebaceous tumors and keratoacanthomas in a case of muir-torre syndrome.Dermatology research and practice · 2010Article
- Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.Familial cancer · 2008Article
- Muir-Torre Syndrome: The Importance of a Detailed Family History.Case reports in ophthalmologyArticle
Corrections and comments
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Authors and funding
11 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
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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