open access: Clinical Utility Gene Card Update - Lynch Syndrome

Clinical Utility Gene Card Update

European Journal of Human Genetics (2013) 21, doi:10.1038/ejhg.2012.164; published online 15 August 2012

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

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.......