Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer.

ABSTRACT:

Background

Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existence of germline variants that influence tumor etiology and/or progression and are filtered out using traditional pipelines for somatic mutation calling.

Methods

In this study, we analyzed whole-genome sequencing (WGS) datasets of matched germlines and tumor tissues to identify recurrent germline variants in pHGG patients.

Results

We identified two structural variants that were highly recurrent in a discovery cohort of 8 pHGG patients. One was a ~ 40 kb deletion immediately upstream of the NEGR1 locus and predicted to remove the promoter region of this g

SUBMITTER: Bobyn A 

PROVIDER: S-EPMC7201963 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature