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Molecular diagnostics has become an indispensable part of modern clinical oncology. Most often, molecular tests are used to examine patients suffering from neoplasia of the reproductive organs, lung, colon, and skin. The detection of hereditary defects in the BRCA1 and BRCA2 genes is now a routine in examining females who have breast and ovary carcinomas. Besides discovering patient’s healthy relatives who bear BRCA 1/2 mutations, the objectives of such examination include modifying the regimens of treatment of already diagnosed tumors. The discovery of mutations in the receptor tyrosine kinases EGFR and ALK led to tremendous progress in treating lung cancer: for the first time in oncology the newly developed tests allow to personalise therapy at a virtually 100% confidence. Many publications address the issue of improving the methods of molecular genetic monitoring of tumor cell clones based on testing the physiological and pathological liquids of human body. Of interest are studies of the usability of DNA and RNA markers for the differential diagnostics of tumors whose primary sites are unknown. Molecular diagnostic is currently being revolutionized by the introduction of whole genome sequencing techniques. A significant expansion of the range of DNA and RNA tests used in clinical practice may be expected in the nearest future.

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About the authors

E N Imyanitov

N. N. Petrov Institute of Oncology

St. Petersburg, Russia


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