Germline susceptibility from broad genomic profiling of pediatric brain cancers.

ABSTRACT:

Background

Identifying germline predisposition in CNS malignancies is of increasing clinical importance, as it contributes to diagnosis and prognosis, and determines aspects of treatment. The inclusion of germline testing has historically been limited due to challenges surrounding access to genetic counseling, complexity in acquiring a germline comparator specimen, concerns about the impact of findings, or cost considerations. These limitations were further defined by the breadth and scope of clinical testing to precisely identify complex variants as well as concerns regarding the clinical interpretation of variants including those of uncertain significance.

Methods

In the course of conducting an IRB-approved protocol that performed genomic, transcriptomic and methylation-ba

SUBMITTER: Mardis ER 

PROVIDER: S-EPMC11259010 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature