Dziedziczny nie związany z polipowatością rak jelita grubego – aspekty praktyczne

*Agnieszka Stembalska, Karolina A. Pesz, Justyna Gil, Maria M. Sąsiadek

Summary
In the developed countries colorectal cancer (CRC) is becoming an increasing health problem. Most often it occurs sporadically, but there are also familial and hereditary cases. Hereditary nonpolyposis colorectal cancer (HNPCC) also known as Lynch syndrome, is one of the better recognized cancer susceptibility syndromes. HNPCC is caused by mutations in genes encoding proteins responsible for DNA repair, so called mismatch repair genes (MMR). Most commonly mutations occur in two genes: MLH1and MSH2. The diagnosis of Lynch syndrome is made on the basis of specific clinical and pedigree criteria (the Amsterdam criteria), that take into account the number of relatives with cancer, in what degree they are related and the age of onset of the disease. In patients with a clinical diagnosis of HNPCC molecular testing is an equally important issue. The Bethesda recommendations serve as a useful tool in recognizing individuals at high risk of HNPCC. The consequences if diagnosing HNPCC include screening tests and early diagnosis of colorectal and other HNPCC-associated cancers. In this article the authors present recent advances in diagnosis and management of patients suspected of HNPCC in form of a short compendium for a practicing physician.

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