Diagnosis of MSH2gene mutations in human colorectal cancer using high resolution melting analysis

The tumor cell process occurs in most cases by environmental and sometimes occasional factors, but in some cases, hereditary factors play an important role. Colorectal cancer (CRC) is the second most common cancer in developed countries. More than 10% of CRC cases are of HNPCC (Hereditary non-polyp sis colorectal cancer) and FAP (Familial adenomatous polyposis) type. HNPCC is the most common type of hereditary colorectal cancer accounting for approximately 1-10% of all colorectal cancers. Germ line mutations in MMR (Mismatch repair) genes, in particular MSH2, MLH1 and MSH6 genes, are the causes of some colorectal cancers. Mutations in MSH2 gene, located on chromosome 2 (2p21), account for 25% of HNPCC cases, with 17-50% involving deletions.A total of 50 tissue samples from patients with CRC were subjected to genomic DNA extraction. Genomic DNA was then subjected to AAT mutation analysis by HRMA (high resolution melting analyze) technique, and confirmed by DNA sequencing technique. In the research with HRMA technique, all samples were found to be of wild type with respect to AAT deletion in MSH2 gene.The results showed that HRMA can be used as a new and highly effective tool for molecular detection and prevention of diseases.