Genomic characteristics of metastatic breast cancer

Metastatic breast cancer remains the leading cause of death for patients with breast cancer. This thesis describes studies aimed at understanding the behavior of metastatic breast carcinoma through the gene expression profiling of primary breast tumors. More specifically, the studies included in this thesis aim to identify the characteristics of primary breast tumors that are predictive of metastatic behavior in terms of organ-specific metastasis, response to systemic therapy and associated patient outcomes. The work described in this thesis, confirms that some traits (i.e. intrinsic subtypes) identified by gene expression profiling of primary breast carcinomas, are correlated with metastasis pattern, but fail to fully conceal the behavior of metastatic breast cancer. Furthermore, our analyses show that correlations between gene expression profiles of the primary breast carcinomas and prediction of chemotherapy response differ in the neoadjuvant and the metastatic setting.