From Genetic Testing to the Operating Room

Excerpt

Cancer is a genetic disease, resulting in simplistic terms from an accumulation of genetic changes within a cell that render it unresponsive to the normal controls for cell growth, repair or programmed death. The detection of a specific gene change conferring an inherited cancer risk can now be accomplished by direct genetic testing for patients with a number of familial cancer syndromes. In these uncommon disorders, a genetic mutation occurs in a critical gene, and the error is inherited in the germline (and therefore present in one allelic copy of the gene in every cell). Furthermore, it has been recognized that the chance occurrence of one or more of these defects in a somatic cell can contribute to the more common sporadic tumors that arise in the same target tissues. Increasingly, cancers are being characterized at the molecular level, and the number and nature of these genetic changes can be correlated with the biologic behavior of the cancer and its prognosis, or may identify an optimal targeted therapy. As genetic diagnosis extends from identifying risk for rare hereditary cancers to testing for more common genetic variants that are associated with increased cancer risk, there is a need to address these complex issues to maximize the benefits of genetic testing1. …