Genomic tests to personalized therapy of patients with metastatic breast cancer

fabrice andre1

1gustave roussy, villjuif, France


development of high throughput genomic analyses allow deciphering the molecular mechanisms involved in cancer progression in individuals. Genomic tests could be used to identify oncogenic drivers, mechanisms of resistance to targeted therapies, DNA repair defects and mechanisms of immune suppression. Several genomic alterations have been suggested to be relevant in breast cancer, including PIK3CA, AKT1, ERBB2, ESR1, BRCA1, BRCA2¬†mutations, and ERBB2, FGFR1 amplifications. The use of whole exome sequencing could be interesting to quantify mutational load and identify mutational processes. Several trials are evaluating the clinical utility of using high throughput technologies. data are suggesting that response rates are low. Nevertheless, these trials were done using non-specific drugs and 1st generation algorithms for target identification. Current trials are using more selective and bioactive drugs and stratify patients based on the relevance of the targets. New technologies are being developed to better characterize¬†molecular alterations for clinical practice. This includes circulating tumor DNA, phospho-protein assays, and RNA-seq.