Research
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome
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* Corresponding author: Els van Riel E.vanRiel@umcutrecht.nl
1 Department of Medical Genetics, University Medical Centre Utrecht, Lundlaan 6, Utrecht, The Netherlands
2 Family Cancer Clinic and Department of Pathology, The Netherlands Cancer Institute, Plesmanlaan 121, Amsterdam, The Netherlands
3 Department of Pathology, St. Antonius Hospital, Koekoekslaan 1, Nieuwegein, The Netherlands
4 Department of Genetics, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, Groningen, The Netherlands
5 Department of Pathology, University Medical Centre Utrecht, Heidelberglaan 100, Utrecht, The Netherlands
6 Department of Clinical Genetics, VU University Medical Centre, De Boelelaan 1117, Amsterdam, The Netherlands
Hereditary Cancer in Clinical Practice 2010, 8:7 doi:10.1186/1897-4287-8-7
Published: 12 August 2010Additional files
Additional file 1:
Table S1. Microsatellite instability- and immunohistochemistry results in patients with MLH1 missense mutation and affected family members.
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Additional file 2:
Table S2. Haplotype analysis results.
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