Vol 9, No 2 (2013)
Review paper
Published online: 2013-04-26
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Application of high-throughput technologies in cancer molecular diagnostics

Mikołaj Poznański, Marzena Anna Lewandowska
Onkol. Prak. Klin 2013;9(2):70-77.

Abstract

The existence of prognostic and predictive point mutations and chromosomal aberrations caused that genetic analysis has become an essential tool in the field of cancer diagnostics. Unfortunately, classical analytical techniques currently used on a large scale have several limitations and imperfections — are relatively time-consuming and inefficient, and at the same time do not provide full information about the disease. The development of technology has contributed to the creation of a number of new, highly advanced solutions, such as techniques based on the use of microarrays, quantitative gene expression analysis using mass spectrometry or modern mechanisms of DNA and RNA sequencing. These solutions allow more accurate and highly efficient analysis of genetic material. Their use allows us not only to reveal the existence of genetic changes which were previously
impossible to detect, but also to conduct research in new areas of cancer genetics, such as changes in expression of certain genes or influence of epigenetic factors on the activity of specific regions of genome. In addition, it has became possible to conduct effective association studies, revealing the correlation between the occurrence
of specific mutations or polymorphisms, and the emergence of certain forms of cancer. It is expected that in the near future technological development will lead to the creation of next generation of analytical methods which will be characterized by a higher degree of accuracy and performance, or will allow previously inaccessible aspects of cancer genetics to be widely studied.

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