engleski

High resolution melting (HRM) analysis of BRAF V600E mutation in sporadic colon cancer

Colorectal cancer arises as a consequence of continuous mutation accumulation in number of oncogenes and tumour suppressor genes. Approximately 50% of colorectal tumours have an aberrant MAPK signalling. Although mutations of genes involved inMAPK signalling pathway are known for sometime, their importance has recently been brought to scientific attention as a consequence of break-troughs in personalized medicine and modern antitumour therapy. Conventional methods of mutation detection are prone to generating false positive or negative results ; therefore, in recent years a method of choice for mutation screening is the high resolution melting fluorescent detection of heteroduplexes (HRM). In this study HRM method was introduced in order to detect the most common BRAF gene mutation, V600E in sporadic colon cancer tumours. A total of 120 tumour samples were analyzed and in 6 (5%) BRAF V600E mutation was detected and confirmed by DNA sequencing. Finally, HRM method has proved itself to be the simplest and faster alternative to conventional methods of mutation detection and can be used for molecular profiling of other tumours where BRAF mutations have an important role.

HRM; BRAF; colon cancer

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