Grants and Contracts Details
Description
Project Summary/Abstract
Pediatric brain and central nervous system tumors (PBCNST) are the most common solid
tumors and are the leading cause of disease-related death in United States (U.S.) children.
PBCNST incidence rates in Kentucky are significantly higher than in the U.S. as a whole and
are even higher among Kentucky’s Appalachian children. To understand and eventually
eliminate such cancer disparities among Kentucky children, population-based research is
needed to gain a thorough understanding of the epidemiology and etiology of the disease.
Our team is currently engaged in a successful Kentucky Pediatric Cancer Research Trust Fund
population-based study to identify factors associated with the high incidence of PBCNST in
Kentucky. The current study leverages the infrastructure provided by the Kentucky Cancer
Registry (KCR), its Virtual Tissue Repository and the NIH Kids First Data Resource Center
(DRC) with the specific aims to: 1) to identify potential environmental exposures associated with
Kentucky’s high rates; 2) to assess whether Kentucky-specific mutations and mutational
signatures exist that may be related to PBCNST, and to determine whether known genetic risk
factors for PBCNST are present among Kentucky children; and 3) implement informatics
infrastructures for data sharing with national PBCNST consortia. Initial findings from this study
have reaffirmed evidence of significantly high PBCNST rates in a 37 county region of central
and Appalachian Kentucky. This subsequent study proposes to expand upon the depth and
breadth of the PBNCST data through the collection of non-cancerous specimens, environmental
samples, and information directly from the PBCNST survivors and their families.
Specific aims of this study are to 1) enhance the retrospective population-based molecular and
clinical data with germline sequencing and analyses; 2) fully characterize potential
environmental, lifestyle and genetic risk factors through patient and family interviews; and 3)
incorporate the additional data and enhance data sharing infrastructures in collaboration with
the Children’s Hospital of Philadelphia (CHOP) and the NIH Kids First Data Resource Center
(DRC).
The first aim will involve contact and recruitment of cancer survivors from the original study to
request the donation of germline (normal) cells through saliva collection kits to be sequenced by
the Children’s Hospital of Philadelphia (CHOP). Germline data will significantly enhance our
ability to identify and distinguish genetic markers that may have increased the risk of developing
these tumors. It will also allow us to more clearly delineate mutational changes specific to the
tumors that have already been sequenced. The second aim…. (Erin/Ellen)
The third aim will expand the Kentucky Cancer Registry Cancer Research Data Commons to
include additional data and enhance the data sharing portal to make the new data accessible to
researchers for current and future studies. The proposed enhancements promote a deeper
understanding of these tumors and risk factors and may further elucidate opportunities for
screening and preventative measures for Kentucky and other children.
Status | Finished |
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Effective start/end date | 7/1/22 → 6/30/23 |
Funding
- KY Cabinet for Health and Family Services: $147,132.00
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