Abstract

In the last half-century, impressive developments in molecular and genetic techniques has provided us with powerful tools for evaluation and decision making in the diagnosis, treatment, and follow-up of breast cancer patients. Standard practice includes the use of estrogen (ER) and progesterone receptor expression levels to describe biological features and endocrine responsiveness, histological grade, Ki67, and molecular signatures to evaluate proliferation and chemotherapy sensitivity, amplification status of the oncogene HER2 to stratify patients for HER2-directed treatment, and BRCA1/BRCA2 mutation status along with other high penetrant genes for hereditary risk assessment. Still other biomarkers are under development, among which the analysis of cell-free circulating tumor DNA (ctDNA) is one of the most exciting.

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