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

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...

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Veröffentlicht in:	Familial cancer 2007-01, Vol.6 (3), p.317-321
Hauptverfasser:	Arnold, Angela, Payne, Stewart, Fisher, Samantha, Fricker, Diane, Soloway, Judith, White, Susan M, Novelli, Marco, MacDonald, Kylie, Mackay, James, Groves, Richard, Canham, Natalie
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenocarcinoma - genetics Adenocarcinoma - pathology Adenoma - genetics Adenoma - pathology DNA-Binding Proteins - genetics European Continental Ancestry Group Genes, Dominant Humans Male Middle Aged Mutation MutS Homolog 2 Protein - genetics Neoplasms, Multiple Primary - genetics Rectal Neoplasms - genetics Rectal Neoplasms - pathology Sebaceous Gland Neoplasms - genetics Sebaceous Gland Neoplasms - pathology Siblings Syndrome
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Zusammenfassung:	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.
ISSN:	1389-9600 1573-7292
DOI:	10.1007/s10689-007-9119-y