Using germline susceptibility testing to inform the treatment of newly-diagnosed cancer patients


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Mark Robson1
1Memorial Sloan-Kettering Cancer Center, New York, NY, USA

Abstract

Germline testing has gained widespread acceptance as a means of assessing individual risk for the development of various types of cancer. Individuals who carry deleterious mutations in high penetrance susceptibility genes undergo intensive surveillance that is not appropriate for the general population, and often consider risk-reducing surgeries. Individuals who test negative for mutations that are present in their family can generally be reassured that they are not at dramatically increased risk for the malignancies associated with the mutation. Although risk assessment for the individual and the family remains the most common rationale for susceptibility testing, the increasing availability of rapid turn-around testing is allowing oncologists to integrate germline information into the management of newly diagnosed patients. Germline test results, like any other biomarker, can be applied to treatment in a number of different ways. The clear definition of increased risk for metachronous second primaries may dramatically influence local treatment decisions. The results may have prognostic significance, or may predict responsiveness to particular treatments. These implications may influence whether or not to deliver adjuvant therapy, or what specific drugs to select in the adjuvant or metastatic setting. In some cases, the germline defect may itself constitute a target for specific therapies. This presentation will briefly review the implications of high penetrance susceptibility testing for the treatment of newly diagnosed patients, with examples in each of these general categories.