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Familial Cancer

Erschienen in:

01.09.2008

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

verfasst von: H. R. Murphy, R. Armstrong, D. Cairns, K. L. Greenhalgh

Erschienen in: Familial Cancer | Ausgabe 3/2008

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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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Titel: Muir-Torre Syndrome: expanding the genotype and phenotype—a further family with a MSH6 mutation
verfasst von: H. R. Murphy
R. Armstrong
D. Cairns
K. L. Greenhalgh
Publikationsdatum: 01.09.2008
Verlag: Springer Netherlands
Erschienen in: Familial Cancer / Ausgabe 3/2008
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-008-9183-y

Springer Medizin

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

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