Genetic heterogeneity and actionable mutations in HER2-positive primary breast cancers and their brain metastases.

ABSTRACT: Brain metastases constitute a challenge in the management of patients with HER2-positive breast cancer treated with anti-HER2 systemic therapies. Here we sought to define the repertoire of mutations private to or enriched for in HER2-positive brain metastases. Massively parallel sequencing targeting all exons of 254 genes frequently mutated in breast cancers and/or related to DNA repair was used to characterize the spatial and temporal heterogeneity of HER2-positive breast cancers and their brain metastases in six patients. Data were analyzed with state-of-the-art bioinformatics algorithms and selected mutations were validated with orthogonal methods. Spatial and temporal inter-lesion genetic heterogeneity was observed in the HER2-positive brain metastases from an index patient subjected t

SUBMITTER: De Mattos-Arruda L 

PROVIDER: S-EPMC5945519 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature