title: What to expect from high throughput genomics in metastatic breast cancers?
abstract: Breast cancer is a heterogeneous disease and its genomic characteristics have been widely studied in the last years. Although several progresses have been made, metastatic disease is still incurable in the majority of patients. Recent genomic studies have shown that a large number of candidate targets exist in breast cancer. Currently only two drivers have been validated (ER and HER2), but several others seem to be associated with objective response, such as PIK3CA mutations, FGFR1 amplifications, AKT1 mutations, EGFR amplifications and ERBB2 mutations. Beside driver identification, many other applications can be developed for genomics such as identification of lethal subclones, DNA repair defects or immune response against tumor. Most of the precision medicine programs currently use targeted sequencing. Nevertheless, whole exome sequencing, RNA sequencing, gene expression analysis, phosphoprotein detection, SNP arrays and ctDNA sequencing have been also proposed in clinical trials.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) U981, Institut de cancérologie Gustave Roussy, Villejuif, F-94800, France; Department of Medical Oncology, S. Andrea Hospital, University of Rome « Sapienza », Rome, Italy.
authors.forename: Concetta Elisa
authors.initials: CE
authors.lastname: Onesti
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) U981, Institut de cancérologie Gustave Roussy, Villejuif, F-94800, France.
authors.forename: Cécile
authors.initials: C
authors.lastname: Vicier
authors.affiliation: Institut National de la Santé et de la Recherche Médicale (INSERM) U981, Institut de cancérologie Gustave Roussy, Villejuif, F-94800, France; Department of Medical Oncology, Institut de cancérologie Gustave Roussy, Villejuif, F-94800, France. Electronic address: fabrice.andre@gustaveroussy.fr.
authors.forename: Fabrice
authors.initials: F
authors.lastname: André
mesh_terms: D001943:Breast Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D055028:Comparative Genomic Hybridization; D004260:DNA Repair / Q000235:genetics; D005260:Female; D020869:Gene Expression Profiling; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D058990:Molecular Targeted Therapy; D016296:Mutagenesis / Q000235:genetics; D017422:Sequence Analysis, DNA; D017423:Sequence Analysis, RNA; D015398:Signal Transduction / Q000235:genetics
keywords: Comparative genomic hybridization; High throughput genomics; Metastatic breast cancer; Next generation sequencing