[The importance of recognizing hereditary non-polyposis colonic carcinoma]

The clinical diagnosis of hereditary nonpolyposis colon carcinoma (HNPCC) can be made in more than 5% of all colorectal cancer cases, depending on the stringency of criteria used. The disease is inherited in an autosomal dominant fashion but penetrance is lower than 100%. The diagnosis must be verified by the demonstration of germline mutations of DNA "mismatch repair" genes. Although yet an exception in our national health practice, these tests are routinely applied in some centers abroad. The recognition of the syndrome is important since these patients can enter a surveillance program and may be cured. The most important pertaining information is summarized through the demonstration of our own case.