作者: Concetta Elisa Onesti , Cécile Vicier , Fabrice André
DOI: 10.1016/J.BREAST.2015.07.006
关键词: Comparative genomic hybridization 、 Genomics 、 Gene expression profiling 、 Breast cancer 、 Precision medicine 、 DNA sequencing 、 Exome sequencing 、 Metastatic breast cancer 、 Computational biology 、 Medicine
摘要: Breast cancer is a heterogeneous disease and its genomic characteristics have been widely studied in the last years. Although several progresses made, metastatic still incurable majority of patients. Recent studies shown that large number candidate targets exist breast cancer. Currently only two drivers validated (ER HER2), but others seem to be associated with objective response, such as PIK3CA mutations, FGFR1 amplifications, AKT1 EGFR amplifications ERBB2 mutations. Beside driver identification, many other applications can developed for genomics identification lethal subclones, DNA repair defects or immune response against tumor. Most precision medicine programs currently use targeted sequencing. Nevertheless, whole exome sequencing, RNA gene expression analysis, phosphoprotein detection, SNP arrays ctDNA sequencing also proposed clinical trials.