Polymerase chain reaction-based methods for the detection of mutations in oncogenes and tumor suppressor genes.

Overview

Altered expression of oncogenes and tumor suppressor genes, the normal function of which is to regulate cell growth and differentiation, represents a central event in the pathogenesis of human cancer. Aberrant expression of these genes is often a result of a mutational event. In vitro amplification of DNA with the polymerase chain reaction (PCR) has enormously increased the sensitivity of the methods to detect mutations. These PCR-based techniques have thus become invaluable in the elucidation of the mechanisms of carcinogenesis as well as in molecular genetics. In addition, the precise definition of a mutation at the molecular level can be a very valuable adjunct to the diagnosis and classification of malignancies as well as to their prognostic assessment. In this article several PCR-based strategies are outlined, their applicability in the detection of different types of mutations is discussed, and finally the application of these techniques in fresh and archival tissues is presented.