Vol. 9, No 2, 2002 pp. 142 - 149
UC 616.34-006

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GENETICS OF COLORECTAL CANCER
Aleksandar Nagorni
Clinic of Gastroenterology and Hepatology Faculty of Medicine, Niš, Yugoslavia
E-mail: anagorni@bankerinter.net

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Summary. Advances in the molecular biology of colorectal cancer (CRC) broadened our understanding of this disease, but also provided insight into the pathogenesis of sporadic and inherited CRC. Mutations of APC gene are responsible for familial adenomatous polyposis (FAP), but mutations in six mismatch repair (MMR) genes: MSH2, MLH1, PMS1, PMS2, MSH6 and MSH3 for hereditary non-polyposis colorectal cancer (HNPCC). Development of genetic tests for detection of reported mutations of genes would make it possible to diagnose gene carriers and to discover CRC in early stage.
Key words:  Mutations, APC gene, FAP, Lynch syndrome (HNPCC)

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GENETIKA KOLOREKTALNOG KARCINOMA Kratak sadržaj: Napredak u molekularnoj biologiji kolorektalnog karcinoma je proširilo naše razumevanje bolesti i omogućilo shvatanje sporadičnog i naslednog kolorektalnog karcinoma. Mutacije APC gena su odgovorne sa porodičnu adenomatoznu polipozu, a mutacije 6 gena (odgovornih za popravku rasparenih baza): MSH2, MLH1, PMS1, PMS2, MSH6 i MSH3 za nasledni ne-polipozni kolorektalni karcinom. Razvoj genetskih testova za otkrivanje saopštenih mutacija gene omogućiće otkrivanje nosioca gena i dijagnozu kolorektalnog karcinoma u ranoj fazi.
Ključne reči: Mutacije, APC gen, FAP, Lynch sindrom (HNPCC)