Clinical Utility of Emerging Molecular Diagnostics in Breast Cancer

摘要: Molecular diagnostic tests are increasingly used in the clinic to tailor therapy molecular characteristics of a cancer. In early stage estrogen receptor (ER)-positive cancer, 21-gene recurrence score assay, as well other gene expression signature-based routinely assist identifying patients for adjuvant chemotherapy. A new generation has also been developed ER-positive cancers estimate risk late and benefit from extended endocrine therefore identify who require 10 years therapy. Among triple-negative breast (TNBC), there is increasing evidence that with germline BRCA mutant highly sensitive platinum drugs, inclusion this agent an anthracycline- taxane-based regimen might improve their outcome. Other proposed “BRCA-ness” markers being tested clinic. Extensive immune cell infiltration (lymphocyte predominant cancer) can be detected by counting tumor-infiltrating lymphocytes or measuring immune-specific expressions recognized favorable prognostic marker predicts greater chemotherapy sensitivity TNBC high-risk, cancers. The clinical utility yet defined, but importance will likely grow immunotherapies entering HER2-positive several demonstrated statistically significant associations response HER2-targeted therapies, predictive values select one over another omit therapies modest have little utility. target profiling metastatic performed determine trial eligibility targeted drugs potentially druggable alterations. Anecdotal examples demonstrate off-label use some matching abnormality, strategy still under study ongoing trials.