Targeted exome sequencing for the identification of common mutational signatures and potential driver mutations for brain metastases and prognosis.

ABSTRACT: Brain metastases (BMs) are malignancies in the central nervous system with poor prognosis. Genetic landscapes of the primary tumor sites have been extensively profiled; however, mutations associated with BMs are poorly understood. In the present study, target exome sequencing of 560 cancer-associated genes in samples from 52 patients with brain metastasis from various primary sites was performed. Recurrent mutations for BMs from distinct origins were identified. There were both genetic homogeneity and heterogeneity between BMs and primary lung tumor tissues. The mutation rate of the major cancer driver gene, TP53, was consistently high in both the primary lung cancer sites and BMs, while some genetic alterations, associated with DNA damage response deficiency, were specifically enri

SUBMITTER: Zhang D 

PROVIDER: S-EPMC7816386 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature