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Integrating Epidemiologic and Genomic Data to Elucidate the Genetic Overlap Between Congenital Anomalies and Pediatric Cancer

Huff, Chad DanielLupo, Philip J

Summary

In our prior work, we have identified multiple novel congenital anomaly-cancer associations by linking data from population-based birth-defects and cancer registries from four states. Here, we propose to expand this study to seven additional states to analyze a cohort representing >25 million live births and approximately 35% of the US population. We will also search for genetic mechanisms driving these associations through the analysis of whole-genome sequencing data in 20,000 children with congenital anomalies or pediatric cancer, including 2000 sequenced tumors.