Onkológia 2/2015

Hereditary oncological syndromes: DNA mutations and diagnostic techniques of genetic testing

DNA variants may be dissociated according to many criteria, based on the type, clinical effect – impact to the function of the protein and onset of the disease, or according to its localization in coding sequence of the gene. Identification of DNA variants is basic method in the clinical laboratory practice in diagnosis of genetic diseases, and for this reason there are number of different approaches and methods that are historically significantly changed and evolved. In this paper, we focus on the identification of DNA variants in terms of DNA diagnostics of oncology units, especially hereditary breast and ovarian cancer (HBOC). In general these procedures considered of the following basic steps: DNA/RNA molecules isolation and purification, amplification of target sequences of analysed genes and analysis of the presence of DNA variants in these amplified fragments. The results of DNA diagnostics are the naimed at identifying predisposition to cancer of risk patients and healthy individuals. Then set up specific dispensarisation prevention programs, and thus prevent the occurrence of cancer. In patients with cancer promotes DNA diagnostics on their personalized therapy or preventive prophylactic surgery intervention.

Keywords: DNA variants, DNA isolation, PCR amplification, sequencing analysis.