We have developed an algorithm to detect DNA damage in the blood using 30x-depth WGS. This yields a quantitative biomarker of DNA damage susceptibility, which we have shown prospectively in adults to be strongly associated with a future cancer diagnosis. Here we will investigate whether this biomarker may also be predictive of childhood cancer.
What are the goals of this project?
The goals of this project are to quantify a WGS-based biomarker of DNA damage in CBTTC cases, to compare biomarker signal between CBTTC cases with a known DNA maintenance defect, and those with apparently competent DNA repair pathways, and to compare biomarker signals between CBTTC cases, ZERO paediatric cancer cases, and cancer-free controls.
What is the impact of this project?
Understanding the genetic reasons why some families develop cancer at a young age is critical for effective screening and identifying at-risk individuals. Currently, we mostly look at the effect of individual mutations in well-known cancer genes to determine a patient's likely cancer risk. Here, we propose to develop new methods which look at far more genes and alternative signals in the data which we believe will lead to better ways of predicting cancer risk.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.
PI: Mark Cowley
Adam Resnick, PhD
Adam Resnick is the Director of Data Driven Discovery in Biomedicine (D3b) at Children’s Hospital of Philadelphia (CHOP) responsible for leading a multidisciplinary team to build and support a scalable, patient-focused healthcare and educational discovery ecosystem on behalf of all children. He i
Children’s Hospital of Philadelphia