Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series.

ABSTRACT:

Background

The genomic characterization of sporadically arising gliomas has delineated molecularly and clinically distinct subclasses of disease. However, less is known about the molecular nature of gliomas that are familial in origin. We performed molecular subtyping of 163 tumor specimens from individuals with a family history of glioma and integrated germline and somatic genomic data to characterize the pathogenesis of 20 tumors in additional detail.

Methods

Immunohistochemical analyses were performed on formalin-fixed, paraffin-embedded tumor sections to determine molecular subtypes of glioma. For 20 cases, tumor DNA was exome sequenced on an Illumina HiSeq 2000 platform and copy number profiling was performed on the Illumina HumanOmniExpress BeadChip. Genotypes at gliom

SUBMITTER: Jacobs DI 

PROVIDER: S-EPMC6231201 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature