Application of RFLP-PCR method for molecular diagnostics of hereditary non-polyposis colorectal cancer (HNPCC)
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Department of Internal Medicine, Medical University, Lublin, Poland
Department of Biological Bases of Animal Production, University of Life Sciences, Lublin, Poland
Department of General Surgery with Endoscopy Unit, Medical University, Lublin, Poland
Department of Anesthesiology and Intensive Care Unit, Medical University, Lublin, Poland
Andrzej Prystupa   

Department of Internal Medicine, Medical University, Staszica 16, 20-081 Lublin, Poland.
J Pre Clin Clin Res. 2011;5(2):70–73
Colorectal cancer is one of the leading causes of cancer deaths, constituting a major public health concern. Epidemiologic studies have revealed a number of risk factors for colorectal cancer including age, family history of colon cancer or inflammatory bowel disease, smoking, alcohol consumption, obesity, and diet. Mutations in MSH2 and MLH2 genes are associated with colon cancer in many studies published to date. The aim of the presented study was to assess the associations of MSH2 and MLH1 genes mutations with colorectal cancer in a Polish population, using the PCR-RFLP method. Mutations in the exon 1 of both genes were detected using the PCR-RFLP method in colorectal patients and healthy individuals. There were no statistical differences in the presence of mutations between colorectal cancer and healthy groups. The PCR-RFLP method is not suitable for the detection of mutant alleles present in less than 5-10% of wild-type alleles. This is probably the reason why in the present study, the analysis did not allow the finding of genetic differences in the first exons of MSH2 and MLH1 genes between healthy individuals and those with the colorectal cancer. It is reasonable to continue studies based on RFLP-PCR, because the costs of this method are low compared to the sequencing method.
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