Novel Genomic Drivers in Pediatric Polyposis Syndromes
Background: Early-onset colorectal cancer is on the rise in the United States, and many of these cases are due to inherited causes of cancer. The earliest sign of this cancer risk can start in childhood with polyps in the gastrointestinal tract that may develop as early as infancy. These polyps are harbingers of cancer risk and require intensive surveillance and screening of affected family members. Most of the patients with Juvenile Polyposis Syndrome (a specific type of childhood polyposis) do not have a known cause of their polyps or early-onset cancer.
Project Goal: Through this project, we are working with affected children and their families to uncover the reason why these polyps develop. We are conducting experiments to confirm some of the changes that we've found in the genes of these patients, and are working to conduct testing on further affected children to better understand this disease.
Project Update 2023: We have conducted genetic studies in over 100 patients and have identified several candidate drivers of disease. In some cases, we have worked with cell lines – and now, with three-dimensional models developed from patient samples – to show that these genetic changes cause growth differences that may be related to cancer risk.
