Familial Investigations of Childhood Cancer Predisposition

This research study aims to find new genes that increase the risk of childhood cancers like Acute Leukemia and Adrenocortical Carcinoma. It is an observational study, meaning no specific interventions are being tested. Researchers will collect blood or other tissue samples, as well as medical and family histories, from up to 1500 participants. The goal is to identify new cancer-predisposing genes, with results potentially available up to 20 years after the study starts. All ages and genders can join. This is a research study and not a substitute for clinical genetic testing; you may not receive results, or they may take many years.

Study design
This is an observational study planning to enroll up to 1500 participants. It is not a randomized or blinded study.
What's involved
You would provide blood or saliva samples, and potentially a skin sample. You would also share your medical and family history, and may be asked to update this information yearly if you agree to be re-contacted.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, identification of novel cancer predisposing genes, is measured up to 20 years following study activation.

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NCT03050268

Familial Investigations of Childhood Cancer Predisposition

Recruiting
Not specifiedAll AgesObservational
St. Jude Children's Research Hospital
~1,500 participants
Updated 2026-06-17 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Identification of novel cancer predisposing genes
Measured over Up to 20 years following study activation
Acute Leukemia
Adenomatous Polyposis
Adrenocortical Carcinoma
AML
BAP1 Tumor Predisposition Syndrome
Carney Complex
Choroid Plexus Carcinoma
Constitutional Mismatch Repair Deficiency Syndrome
Diamond-Blackfan Anemia
DICER1 Syndrome
Dyskeratosis Congenita
Emberger Syndrome
Familial Acute Myeloid Leukemia
Familial Adenomatous Polyposis
Fanconi Anemia
Familial Cancer
Familial Wilms Tumor
Familial Neuroblastoma
GIST
Hereditary Breast and Ovarian Cancer
Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hodgkin Lymphoma
Juvenile Polyposis
Li-Fraumeni Syndrome
Lynch Syndrome
MDS
Melanoma Syndrome
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2
Neuroblastoma
Neurofibromatosis Type 1
Neurofibromatosis Type II
Nevoid Basal Cell Carcinoma Syndrome
Non Hodgkin Lymphoma
Noonan Syndrome and Other Rasopathy
Overgrowth Syndromes
Pancreatic Cancer
Peutz-Jeghers Syndrome
Pheochromocytoma/Paraganglioma
PTEN Hamartoma Tumor Syndrome
Retinoblastoma
Rhabdoid Tumor Predisposition Syndrome
Rhabdomyosarcoma
Rothmund-Thomson Syndrome
Tuberous Sclerosis
Von Hippel-Lindau Disease
1 sites across 1 states
Tennessee1
  • Kim E. Nichols, MD · PRINCIPAL_INVESTIGATOR · St. Jude Children's Research Hospital

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Eligibility criteria

Inclusion

An individual who meets this protocol's definition of "Familial Cancer," as above.
Biologic relatives of an individual meeting this protocol's definition of "Familial Cancer," who are either affected or unaffected by cancer.

Exclusion

An inability or unwillingness of the research participant or his/her legally authorized representative (LAR) to provide written informed consent.
The participant has received allogeneic bone marrow transplantation and has NO pre-transplant germline (cancer-unaffected) DNA available AND is unwilling to provide a skin sample.
  • Identification of novel cancer predisposing genesUp to 20 years following study activation

    Probands and cancer affected and unaffected relatives from selected families will be sequenced using Whole Genome Sequencing (WGS) or possibly Whole Exome Sequencing (WES) and analyzed to identify new predisposing genetic variants that co-segregate with the tumor phenotype. Data will be analyzed using annotation and filtering strategies to identify potentially deleterious germline mutations that co-segregate with disease.