Molecular diagnosis in oncology

Abstract

Recent advances of molecular genetics have made a noticeable impact in some areas of clinical medicine. Almost comprehensive understanding of the nature of hereditary tumors is frequently heralded as the most substantial practical achievement of molecular oncology. Proper diagnostic algorithms have already been developed for the vast majority of known familial cancer syndromes. Interestingly, an unexpectedly strong "founder" effect has been documented at least for some hereditary cancers occurring in Russia, that significantly simplifies the detection of the corresponding disease-associated gene variants. The number of tests aimed to customize cancer treatment continues to grow every year. EGFR mutation test appears to be the most impressive, as it allows to predict lung cancer response or non-response to gefitinib or erlotinib with indeed unique level of accuracy. The approaches helping to determine individual efficacy and safety profiles for fluoropyrimidines, platinum compounds, irinotecan etc. are currently under development Methods aiming to detect residual amounts of disseminated cancer cells represent another popular avenue of the research. It is expected that these technologies will improve the quality of prediction of local and distant metastases, facilitate monitoring of the minimal residual disease and, in the long perspective, provide the tool for early cancer diagnosis. One has to remember that the molecular detection of disseminated tumor cells is currently used mainly in research settings and is not yet incorporated into routine clinical practice.