Molecular Analysis of the APC, MLH1 and MSH2 Genes in Palestinian Families with Suspected Hereditary Colon Cancer Syndromes

Cancer is a disease characterized by the uncontrolled growth and division of cells within the body, usually leading to the formation of a tumor. Cancer is one of the most common diseases in the world. Statistics indicated that cancer strikes more than one third of the population and it is the cause of more than 20% of all deaths. Colon cancer is one of the most common internal malignant tumors diagnosed in both males and females. In general, cancer affects older people, as internal and external risk factors and mutations accumulate over a period of time that lead to uncontrolled cell growth and proliferation. However, there are certain cancer syndromes that appear within families and affect younger individuals such as familial adenomatous polyposis colorectal cancer (FAP) and hereditary non-polyposis colorectal cancer (HNPCC). HNPCC is caused by mutations in the MMR genes (MLH1 and MSH2) and FAP is caused by mutations in the APC tumor suppressor gene. The aim of this study is to check the prevalence of certain founder mutations in Palestine and to identify new mutations inside the Palestinian society. Blood samples were collected from 86 human cases. Then, DNA was extracted and certain regions of the genes (MLH1, MSH2 and APC) were amplified using PCR technique. For the characterization of DNA mutations of the investigated genes, direct sequencing was performed on the relevant DNA fragments. It was found out that the founder mutations don’t contribute to colon cancer cases in Palestine. Moreover, new variants were detected in the sequenced samples of the genes APC, MLH1 and MSH2.