Abstract
1542Background: Lynch syndrome (LS) is caused by germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, PMS2) or EPCAM, and is associated withincreased cancer risk. The incidence of LS in Iceland is unknown. We investigated the incidence of LS and etiology of MMR deficiency (dMMR) by screening all Icelandic individuals diagnosed with colorectal cancer (CRC) over a decade for dMMR and correlated the results with complete information on LS gene variation and cancer incidence. Methods: Immunohistochemistry (IHC) for MLH1, MSH2, MSH6, and PMS2 was performed on all CRC cases diagnosed from 2000-2009 in Iceland. Cases with MLH1/PMS2 deficient tumors underwent MLH1 hypermethylation (MLH1-hm) testing. Information on MMR gene variation in the Icelandic population was extracted from a genetic database. Germline genotyping was done on peripheral blood mononuclear cells obtained from all patients with dMMR tumors and 78.2% of patients with MMR proficient tumors. All unexplained dMMR cases underwent whol...
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