ONLINE MUTATION REPORT Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States

Hereditary non-polyposis colorectal cancer (HNPCC,Lynch syndrome) is an autosomal dominantly inheritedsyndrome predisposing to the early development of cancers of the colon, rectum, endometrium, small bowel, and urinary tract and accounts for ∼5 % of all colon cancer cases.1 There are at least five genes involved in this cancer predisposi-tion and they include MLH1,2 MSH2,3 MSH6,4 PMS2, and PMS1.5 Currently, more than 300 different mutations have been described in these genes which account for approxi-mately 500 HNPCC kindreds from different parts of the world.6 MLH1 and MSH2 genes show abnormalities in more than 90 % of HNPCC families with identified germline mutations