Abstract: |
Breast cancer is one of the leading causes of cancer-related death in women worldwide. After the histologic assessment and diagnosis of an invasive breast carcinoma, the use of biomarkers, multigene expression assays, and mutation profiling may be utilized. With the development of improved molecular profiling assays with faster turnaround times, the identification of “driver” and “actionable” somatic genetic alterations in key oncogenes and tumor suppressor genes now play an essential role in the diagnosis and treatment of many cancers, and this is evolving in the treatment of breast cancer as well. This chapter summarizes the most clinically significant somatic genetic alterations in breast cancer and how this information can be used to facilitate diagnosis, provide potential treatment options, and identify mechanisms of resistance. © Springer Nature Switzerland AG 2020. |