# The mechanisms of somatic genome rearrangements in pediatric brain tumors

> **NIH NIH R03** · UNIVERSITY OF CHICAGO · 2020 · $162,000

## Abstract

ABSTRACT
Pediatric brain cancer remains a deadly disease. What drives these tumors are still largely unknown. The
tumors carry a lot fewer somatic point mutations than adult tumors. In contrast, they harbor a large number of
somatic genome rearrangements, such as deletions, inversions and translocations. Generally, genetic
alterations are caused by spontaneous mutations, external mutagens, erroneous DNA replication and aberrant
DNA damage repair. However, what induces genomic rearrangements in pediatric brain tumors and to what
extent the rearrangements contribute to disease progression and treatment response remain unknown. A
better understanding of mutational mechanisms is not only necessary to resolve the causes of the disease, but
can also guide clinical practices and drug development. For example, if some genomic rearrangements are
associated with mutagens, avoiding the mutagens can help lower the risk of cancer. If certain germline variants
are associated with increased occurrence of somatic rearrangements, individuals carrying such variants shall
be screened for cancer at earlier age. Furthermore, alterations in DNA damage repair genes and pathways
may be used as prognostic biomarkers and some pathways may even be targeted by drugs. As part of the
Gabriella Miller Kids First Program, the Children’s Brain Tumor Tissue Consortium (CBTTC) has collected a
large number of pediatric brain tumors and sequenced 800 tumor genomes and transcriptomes, which
provides us an unprecedented opportunity to perform a comprehensive study on somatic genome
rearrangements. Our study aims to dissect the causes of somatic genome rearrangements by mathematically
modeling the mutational mechanisms using the genomic sequencing data. We expect to identify factors
responsible for the formation of somatic genome rearrangements in pediatric brain tumors and provide new
insights to disease prevention and treatment.

## Key facts

- **NIH application ID:** 9877823
- **Project number:** 1R03CA246228-01
- **Recipient organization:** UNIVERSITY OF CHICAGO
- **Principal Investigator:** Lixing Yang
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $162,000
- **Award type:** 1
- **Project period:** 2020-01-01 → 2021-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9877823

## Citation

> US National Institutes of Health, RePORTER application 9877823, The mechanisms of somatic genome rearrangements in pediatric brain tumors (1R03CA246228-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9877823. Licensed CC0.

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