Evaluating the Intersection Between Birth Defects and Childhood Cancer: An Integrated Epidemiologic and Genomic Approach - Dr. Philip Lupo
August 1, 2019 | 10:30 AM – 11:30 AM
NCI Shady Grove TE 406 Rockville, MD
Philip Lupo, Ph.D., M.P.H., Associate Professor,
Baylor College of Medicine
One of the strongest risk factors for cancer in children is being born with a congenital anomaly—this is true both for chromosomal abnormalities (e.g., Down syndrome) and non-chromosomal birth defects (e.g., non-syndromic congenital heart defects), as recently validated in our registry linkage study of over 10 million live births. By linking data from population-based birth defects and cancer registries in four states included in the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, we identified multiple novel congenital anomaly-cancer associations that are not part of known cancer predisposition syndromes. We also observed increasing cancer risk with a corresponding increase in the number of non-chromosomal defects, which likely represent novel cancer predisposition syndromes. Whole-genome sequencing of case-parent trios where probands have multiple birth defects and cancer is beginning to reveal novel germline pathogenic variants that are consistent with our epidemiologic findings.
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