par Aftimos, Philippe ;Abdel Azim, Hatem Hamdy ;Sotiriou, Christos
Référence Molecular Pathology: The Molecular Basis of Human Disease, Elsevier Inc., page (569-588)
Publication Publié, 2017-11
Partie d'ouvrage collectif
Résumé : Breast cancer has been increasingly recognized as a heterogeneous disease with distinct subtypes being identified with the advances of molecular techniques and diagnostics. Although subtyping mainly depended on immunohistochemical markers such as the estrogen receptor, the progesterone receptor, and the human epidermal growth factor receptor 2 (HER2), novel subtypes within the three historical subtypes have been defined using gene expression profiling and next-generation sequencing. This new classification has both prognostic and predictive value not only in the advanced setting but also in the treatment of early breast cancer. Furthermore, the discovery of genomic markers of sensitivity and resistance has led to the approval of multiple targeted therapies, whereas others are still in development. The use of biomarkers will also serve treatment deescalation because the first results of large studies testing genomic signatures in the early setting favor the use of gene expression profiling in treatment decisions. Finally, the discovery of immune markers is paving the way for new immune signatures. Indeed, tumor-infiltrating lymphocytes are starting to be used as prognostic and predictive markers while novel immunotherapy agents are being tested both in the advanced and early setting.