Cancer Predisposition Research Receives $400,000 From St. Baldrick’s Foundation

ATLANTA (Aug. 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, a 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, who is 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, Drs. Porter and 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 at Emory University School of Medicine. “Sometimes, neither parent has the mutated gene but it occurred as a child was developing in the womb.”

Of all childhood cancers, 10% 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 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 to 300 participants ages 0 to 21 years old each year for five years, then follow those patients 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 (NIH). The goal is to improve care and outcomes for this group of children at a uniquely high risk of developing cancer and, one day, prevent cancer before it develops.

For more information:

Julie Kuchta

Children's Healthcare of Atlanta


About Children’s Healthcare of Atlanta

As the only freestanding pediatric healthcare system in Georgia, Children’s Healthcare of Atlanta is the trusted leader in caring for kids. The not-for-profit organization’s mission is to make kids better today and healthier tomorrow through more than 60 pediatric specialties and programs, top healthcare professionals, and leading research and technology. Children’s is one of the largest pediatric clinical care providers in the country, managing more than one million patient visits annually at three hospitals, Marcus Autism Center, the Center for Advanced Pediatrics, urgent care centers and neighborhood locations. Consistently ranked among the top children’s hospitals by U.S. News & World Report, Children’s Healthcare of Atlanta has impacted the lives of kids in Georgia, across the United States and around the world for more than 100 years thanks to generous support from the community.

About Emory University School of Medicine

About Emory University School of Medicine
Emory University School of Medicine is a leading institution with the highest standards in education, biomedical research and patient care, with a commitment to recruiting and developing a diverse group of students and innovative leaders. Emory School of Medicine has more than 3,400 full- and part-time faculty, 592 medical students, 497 allied health students in five programs, 1,388 residents and fellows in 115 accredited programs, and 92 MD/PhD students. Medical school faculty received $588.4 million in external research funding in fiscal year 2022. The school is best known for its research and treatment in infectious disease, brain health, heart disease, cancer, transplantation, orthopaedics, pediatrics, renal disease, ophthalmology and geriatrics.

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