Mutations involved in colorectaI carcinoma development (diagnosis, prevention)


Klin Onkol 2001; 14(6): 189-192.

Summary: Cancer is caused by many gene mutations leading to intracellular regulation disorder. There are many new bits of informations about protooncogene, tumour suppressor gene and mutator gene mutations which are important for prevention, diagnosis and therapy. Colorecta! cancers (CRC) are the second leading cause of cancer death and they are one of the best understood tumours. They are mostly sporadic, but about 10 % of CRC are hereditary due to autosomal dominant syndromes: familial adenomatous polyposis coli (FAP) and Lynch syndrome (hereditary non-polyposis colorecta! cancer, HNPCC). Molecular diagnostic methods allow effective prevention in these families in CR. The most frequent mutations involved in CRC development are K-ras mutations, DCC mutations (18q), TP53 mutations( l7p) and MMR genes mutations. There is some new information about the role of CDHl, CTNNBl, and TER genes mutations. These mutations are studied to obtain new prognostic markers and they improve therapeutic measures. Population screening focused to seniors and genetic examination in risk families are substantial for CRC effective early diagnosis