Identification of Genetic and Epigenetic Factors That Contribute to the Increased Risk of Cancer in Children with Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS) is a rare pediatric genetic disorder characterized by general body overgrowth and increased predisposition to developing cancer including hepatoblastomas and Wilms tumors. BWS can be caused by genetic and/or epigenetic changes on human chromosome 11 which have also been associated with the development of breast and colon cancers.

Researchers at the Center for Childhood Cancer Research are studying the genetic and epigenetic mechanisms that contribute to the increased risk of some children with BWS to develop cancer. Using induced and differentiated pluripotent human stem cell lines (derived from patients with BWS), researchers will use molecular profiling and whole genome analysis to identify possible cellular pathways that contribute to tumorigenesis in BWS patients. Also, novel mouse models of BWS will be used to evaluate the roles of two independently-regulated genes on chromosome 11, in BWS tumor formation and growth.

The results from these two lines of research will provide insights into the genetic and/or epigenetic mechanisms that increase the risk of cancer in children with BWS.

The Children’s Hospital of Philadelphia (CHOP) has started a Beckwith-Wiedemann Syndrome (BWS) and 11p Overgrowth Spectrum patient registry to systematically study the many unanswered questions facing children and families with these conditions. By gathering and storing clinical data and blood and tissue samples from patients, we hope to improve understanding of the BWS spectrum. Any infant, child, or adult presenting with a disorder of growth that is suggestive of the BWS spectrum will be eligible to participate. The registry-repository is an ongoing effort. For more information, please contact us at

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