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- Publisher
- Springer Journals
- Copyright
- Copyright © 2007 by Springer Science + Business Media B.V.
- Subject
- Biomedicine; Biomedicine general; Epidemiology; Human Genetics ; Cancer Research
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-007-9119-y
- pmid
- 17323113
- Publisher site
- See Article on Publisher Site
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.
Journal
Familial Cancer – Springer Journals
Published: Feb 24, 2007