Germline microsatellite genotypes differentiate children with medulloblastoma.

ABSTRACT:

Background

The germline genetic events underpinning medulloblastoma (MB) initiation, and therefore the ability to determine who is at risk, are still unknown for the majority of cases. Microsatellites are short repeated sequences that make up ~3% of the genome. Repeat lengths vary among individuals and are often nonrandomly associated with disease, including several cancers such as breast, glioma, lung, and ovarian. Due to their effects on gene function, they have been called the "tuning knobs of the genome."

Methods

We have developed a novel approach for identifying a microsatellite-based signature to differentiate MB patients from controls using germline DNA.

Results

Analyzing germline whole exome sequencing data from a training set of 120 MB subjects and 425 contro

SUBMITTER: Rivero-Hinojosa S 

PROVIDER: S-EPMC6954392 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature