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Discovering the causes of cancer and the means of prevention

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

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DCEG Seminar


Philip Lupo, Ph.D., M.P.H., Associate Professor,
Pediatrics, Hematology-Oncology
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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