Abstract
Summary: Colorectal cancer is a significant health problem in the developed countries, it is the second leading cause of cancer death in both males and females. Altough the specific etiology, like in other tumors, is unknown, some environmental, dietary and genetic, as well as hereditary and nonhereditary factors are considered to play an important role in the development of CRC.
The two best defined inherited diseases are Familial Adenomatous Polyposis (FAP) with APC gene mutation and Hereditary Nonpolyposis Colorectal Cancer (HNPCC) with specific mutation on chromosomes 2p and 3p with microsatellite instability (MSI). Mutation of the p53 gene, guardian of the genome, seems to be a critical step in the progression of sporadic CRC.
Not only mutation of this suppressor gene but also mutations on chromosome 5qand 18q has been identified together with either genetic changes such as amplification and methylation of DNA. Colorectal cancer is one of the best characterized tumors from molecular genetic point of view and serves as a model for the study of genetic abnormalities for many other neoplasms.