A pediatric cancer predisposition syndrome happens when a child is born with a genetic mutation that changes how a specific gene works. This gene, often called a tumor suppressor gene, cannot protect cells from becoming cancerous when it isn’t working properly. The mutation increases the overall risk for affected children to develop cancer or a number of benign tumors, especially at younger ages.
The Cancer Predisposition Program at the Aflac Cancer and Blood Disorders Center cares for patients who have this increased risk, from birth, through childhood and into adolescence.
Cancer predisposition syndromes cause 10 percent of all pediatric cancers. Diagnosing one of these syndromes leads to proactive and targeted surveillance of the patient and identification of other at-risk relatives.
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The Cancer Predisposition Program treats children under the age of 18 who are at an increased risk of developing cancer due to a cancer predisposition syndrome. Below are some of the most common cancer predisposition syndromes found in children.
At the Cancer Predisposition Program, our goal is to provide individualized care and counseling to all patients and families affected by cancer predisposition syndromes by harnessing the power of precision medicine and the most up-to-date research from the medical genetics and hematology/oncology community.
During a typical new patient appointment at our clinic, we provide:
- Risk assessments for cancer predisposition syndromes through collection of personal and family health history.
- Genetic testing with pre- and post-test counseling, including education on implications of diagnosis for both patient and family members.
- Comprehensive medical evaluations by a board-certified pediatric hematologist-oncologist.
- Personalized tumor surveillance options based on each family’s needs and the current guidelines.
- Research study enrollment, when appropriate.
- Identification of clinical trials, when appropriate.
What should you bring to your child’s appointment at the Cancer Predisposition Program?
- Any previous genetic testing results.
- Knowledge about the family history of cancer (in child, siblings, parents, aunts and uncles, and grandparents), including type(s) and age of diagnosis.
- Any questions or concerns regarding the risk of cancer in your child and/or family members.
Building a pedigree
The cancer predisposition team will build a pedigree for your child or teen based on the family history and genetic testing information provided at the first appointment. A pedigree is a graphic representation of a family’s medical history and genetic relationships as it relates to cancer, typically going back three generations. A pedigree takes into account:
- Who in the family has been diagnosed with cancer.
- How old they were when the cancer was diagnosed.
- What type of cancer they had.
Building a pedigree allows the cancer predisposition team to look for certain patterns, which helps the team in its risk assessment. Certain patterns increase the likelihood of a cancer predisposition syndrome beyond the 10 percent baseline risk. These patterns include:
- Cancer types
- Age of diagnosis
- Previous results from cancer screening (e.g., history of colon polyps)
- Any previous lumps/bumps (e.g., thyroid nodules)
- Side of the pedigree affected (maternal, paternal or both)
What is genetic counseling?
Genetic counseling helps patients understand how genetic conditions might affect them and their family members.
All new patients referred to the Cancer Predisposition Program will meet with one of our team’s genetic counselors. The genetic counselor will take a personal and family history, perform a risk assessment, describe any relevant cancer predisposition syndromes, recommend surveillance and coordinate genetic testing, if applicable.
If the patient or a family member has had previous genetic testing, it is helpful to bring the report to the appointment.
Our Cancer Predisposition Program takes a multidisciplinary approach by incorporating comprehensive, pediatric-focused genetic counseling and cutting-edge genetic tools to ensure the highest level of care for each patient and family.
- U.S. News & World Report ranks the Aflac Cancer and Blood Disorders Center among the top pediatric cancer programs in the country.
- We are one of the largest pediatric cancer predisposition programs in the Southeast and the only center in Georgia.
- We provide services to more than 300 patients and family members who are at risk for developing cancer.
- We are No. 2 in Children’s Oncology Group (COG) therapeutic clinical trial enrollment.
Dr. Porter receives St. Baldrick’s Consortium Research Grant
Christopher Porter, MD, received a $400K grant to create a Consortium for Childhood Cancer Predisposition aimed at improving outcomes for those most at risk of cancer through better identification, early tumor detection, optimized psychosocial support and cancer prevention.READ MORE
Patients must be referred to our Cancer Predisposition Program. The following are among the reasons for referral to the program:
- The patient or a blood relative has a known cancer predisposition syndrome (e.g., Li-Fraumeni syndrome).
- Tumor type is suggestive of a specific cancer predisposition syndrome (e.g., adrenocortical carcinoma, renal cell carcinoma or pleuropulmonary blastoma).
- Tumor genetic testing is suggestive of a cancer predisposition syndrome (e.g., TP53 mutation identified in osteosarcoma tissue biopsy).
- Two or more malignancies are found in one patient (e.g., patient diagnosed with rhabdomyosarcoma and a subsequent osteosarcoma).
For referring physiciansIf you are a physician and you have questions regarding a referral for a patient to the Cancer Predisposition Program, please complete the steps outlined below:
- Christopher Porter, MD
- Sarah Mitchell, MD
- Bojana Pencheva, MMSc, CGC
- Ellie Westfall, MMSc, CGC