The Role of Mutational Signatures in the Development of Childhood Cancer

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CBTN Data Used


Research Training Award for Cancer Prevention Post-Graduate Training Program in Integrative Epidemiology from the Cancer Prevention and Research Institute of Texas

About this


Cancer is the major cause of childhood mortality worldwide. The cancer incidence rate is approximately 150 cases per million children in the U.S. of which leukemia followed by central nervous system tumors are the most common malignancies. Despite the improvements in treatment of childhood cancer, the survivors have an increased risk of developing secondary chronic illnesses in later life; thus a poorer overall health status and quality of life compared to individuals without a cancer history. Despite their prevalence and clinical importance, knowledge on the molecular characterizations of childhood cancer is limited.

Recently, by employing sequencing technology and developing algorithms to identify mutational signatures from catalogues of somatic mutations, twenty one distinct validated mutational signatures were identified in 30 different classes of cancer (dominantly in adults). However, the role of these validated genetic signatures in the development of childhood cancer is largely unknown.

The purpose of the proposed project is to investigate the importance of the validated mutational signatures in childhood malignancies and to identify new mutational signatures specifically for pediatric cancers.

Ask The


Ask the scientists

What are the goals of this project?

By evaluating the validated and new mutational signatures in a variety of childhood malignancies, we aim to compare the somatic aberrations across different histological types of childhood cancer. Additionally, we aim to examine the association between these validated somatic profiles and any significant germline variants identified from our separate genome-wide association studies of the same pediatric cancers.

What is the impact of this project?

By considering the limited knowledge available on the molecular characteristics of childhood cancer, the proposed histology-specific study on somatic mutational signatures will provide essential new knowledge of somatic aberrations contributing to the development of childhood cancer.

Why the CBTN request is important to this project?

All the data at CBTN will be pooled with available data at Baylor College of Medicine, from different resources, to achieve an adequately powered study. A large sample size is essential to be able to identify new mutational signatures specifically for childhood cancers.

Specimen Data

The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.

Explore the data in these informatics portals


Meet The


Michael Scheurer, Baylor College of Medicine
Philip J. Lupo, Baylor College of Medicine