| Abstract: |
Breast cancer exhibits remarkable heterogeneity and encompasses a wide spectrum of diseases with different biology, molecular profiles, clinical behavior, responses to therapy, and outcomes. In contrast to common forms of breast cancer that display profound genetic heterogeneity, certain special histologic subtypes of breast cancer are characterized by specific or even disease-defining genetic alterations. The identification of these genetic alterations holds substantial value in diagnostic breast pathology practice and, notably, can open avenues for targeted therapies. Furthermore, genetic profiling of breast cancer can facilitate the detection of actionable genetic alterations and those associated with therapeutic resistance. The integration of genetics and histology into breast cancer classification systems can aid in the refinement of a breast cancer taxonomy that is central to the realization of precision medicine in this disease. In this chapter, we outline key genotypic-phenotypic correlations in breast cancer, as well as other clinically relevant genetic alterations. © 2025 selection and editorial matter, Xianfeng F. Zhao and Shiyong Li. |
