Role of Genetic Testing in Breast Cancer

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The paradigm in breast cancer has changed from a purely histopathological diagnosis to a more genomic-based or molecular-based focus, Francisco J. Esteva, MD, PhD, states. Treatments are now based on information beyond just the architecture of the cancer to examine which proteins are expressed (eg, estrogen receptor, progesterone receptor, HER2, etc.).

Several multigene panel tests can be used to delve deeper into the genomic profiling of a patient’s cancer, including Oncotype DX, Mammaprint, and Prosigna, Esteva explains. These tests can be used to categorize patients into low-, intermediate- and high-risk groups, which in turn can determine a patient’s potential benefit from chemotherapy versus targeted therapy.