ATLANTA (August 5, 2020) – Chris Porter, MD, director of the Children’s Healthcare of Atlanta Cancer Predisposition Program, recently received a $400,000 grant from the St. Baldrick’s Foundation to advance knowledge around cancer predisposition syndrome in pediatrics. The affected patient population inherits a mutated gene that puts them at greater risk to develop the disease early in life. While researchers have identified dozens of syndromes over the past 20 years attributable to more than 100 such genes through genomic testing, recent studies indicate there are more syndromes yet to be discovered.
“There are many kids with a cancer predisposition syndrome who have not yet had cancer,” said Dr. Porter, pediatric hematologist and oncologist at the Aflac Cancer and Blood Disorders Center of Children’s. “These kids have not had a systematic study available to them because there has not been a national effort to collect data. That’s the advantage of this project.”
The “Consortium for Childhood Cancer Predisposition” involves multicenter collaborative research led by Dr. Porter and co-principal investigator Anita Villani, MD, affiliated with the Hospital for Sick Kids in Toronto. The research will build upon an initial $250,000 planning grant Dr. Porter received from St. Baldrick’s Foundation in 2019 for a multicenter registry and biorepository known as the “Childhood Cancer Predisposition Study.” With the new $400,000 grant, Dr. Porter and Dr. Villani can now implement the study by enrolling patients previously diagnosed with a cancer predisposition syndrome, as well as eligible family members.
“Cancer predisposition syndrome is not caused by a genetic change in the tumor itself but a genetic change in the entire body,” said Dr. Porter, who is also an associate professor with the Emory University School of Medicine Department of Pediatrics. “Sometimes neither parent has the mutated gene but it occurred as a child was developing in the womb.”
Of all childhood cancers, 10 percent are attributed to childhood cancer predisposition syndromes. Syndromes included in the consortium to be studied are Li-Fraumeni Syndrome, Familial Adenomatous Polyposis, Succinate Dehydrogenase, Beckwith-Wiedemann Syndrome, PTEN Hamartoma Tumor Syndrome and von Hippel-Lindau Syndrome. Other hospitals participating in the consortium with Children’s Healthcare of Atlanta and the Hospital for Sick Kids in Toronto are Children’s Hospital of Philadelphia, St. Jude Children’s Research Hospital, Texas Children’s Hospital, Boston Children’s Hospital and Primary Children’s Hospital. All seven sites will enroll 200-300 participants ages 0-21 years-old per year for five years then follow them for another five years. The team will collect relevant medical history, saliva samples for DNA testing and potentially ask for blood samples during clinic visits for surveillance. In contrast to prior studies, they will also collect a more in-depth family history using an online referral platform.
“We will evaluate and optimize care before and after the cancer develops,” said Dr. Porter.
Upon analyzing the robust data, the team hopes to better understand carcinogenesis, tumor surveillance, early detection and cancer risk reduction, resulting in numerous sub-studies and potentially contributing to the Childhood Cancer Data Initiative through the National Institutes of Health. The goal is to improve care and outcomes for this group of children at a uniquely high risk of developing cancer and, one day, to prevent cancer before it develops.