European Journal of Human Genetics - Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

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European Journal of Human Genetics - Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

Clinical Utility Gene Card Update

European Journal of Human Genetics advance online publication 15 August 2012; doi: 10.1038/ejhg.2012.164

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012

Nils Rahner¹, Verena Steinke², Brigitte Schlegelberger³, Francois Eisinger⁴, Pierre Hutter⁵ and Sylviane Olschwang⁴

1. ¹Medical Faculty, Institute of Human Genetics, University of Dusseldorf, Dusseldorf, Germany
2. ²Institute of Human Genetics, University of Bonn, Bonn, Germany
3. ³Hannover Medical School, Institute for Cellular and Molecular Pathology, Hannover, Germany
4. ⁴Centre de Recherches en Cancerologie de Marseille, Institut Paoli Calmettes, Marseille, France
5. ⁵Unit of Genetics, Institut Central des Hopitaux Valaisans, Sion, Switzerland

Correspondence: Dr N Rahner, Institute of Human Genetics, University of Dusseldorf, Universitaetsstrasse 1, 40225 Dusseldorf, Germany. Tel: +49 211 81 12355; Fax: +49 211 81 12538; E-mail: nils.rahner@uni-duesseldorf.de

Update to: European Journal of Human Genetics (2010) 18, 1069; doi:10.1038/ejhg.2009.232; published online 27 January 2010

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Lynch syndrome/HNPCC.

1.2 OMIM# of the disease

276300, 613244.

1.3 Name of the analysed genes or DNA/chromosome segments

MLH1, MSH2, MSH6, PMS2, and EPCAM.