Familial Investigations of Childhood Cancer Predisposition

  • End date
    Mar 31, 2037
  • participants needed
  • sponsor
    St. Jude Children's Research Hospital
Updated on 21 May 2021
biological factors
genetic testing
childhood cancer
familial cancer


NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility criteria for this study as shown in the Eligibility Section, you may enroll regardless of the results of your clinical genetic testing.

While it is well recognized that hereditary factors contribute to the development of a subset of human cancers, the cause for many cancers remains unknown. The application of next generation sequencing (NGS) technologies has expanded knowledge in the field of hereditary cancer predisposition. Currently, more than 100 cancer predisposing genes have been identified, and it is now estimated that approximately 10% of all cancer patients have an underlying genetic predisposition.

The purpose of this protocol is to identify novel cancer predisposing genes and/or genetic variants. For this study, the investigators will establish a Data Registry linked to a Repository of biological samples. Health information, blood samples and occasionally leftover tumor samples will be collected from individuals with familial cancer. The investigators will use NGS approaches to find changes in genes that may be important in the development of familial cancer. The information gained from this study may provide new and better ways to diagnose and care for people with hereditary cancer.


  • Establish a registry of families with clustering of cancer in which clinical data are linked to a repository of cryopreserved blood cells, germline DNA, and tumor tissues from the proband and other family members.


  • Identify novel cancer predisposing genes and/or genetic variants in families with clustering of cancer for which the underlying genetic basis is unknown.


During the study, blood samples or other healthy tissue will be obtained from participants, as well as medical and family histories. When possible, leftover tumor samples will also be collected. If participants agree to be re-contacted in the future, they will be asked about once each year to update their health information and family history.

A blood sample will be drawn at St. Jude or at a convenient place of the participant's choice. Saliva collection will be obtained if a blood draw is not possible. For participants who are present at St. Jude, saliva collection will generally be performed only once using a saliva collection kit. However, if the first collection is not sufficient for protocol required studies, then additional saliva samples may need to be collected, for up to a total of 5 occurrences. For non St. Jude participants, or participants who do not wish or cannot come to St. Jude, saliva will be collected locally and shipped back to the St. Jude. A skin sample will be performed as a source of germline DNA from participants who have undergone an allogeneic bone marrow transplant and do not have a source of pre-transplant DNA available. A skin sample will only be obtained one time.

The biological samples will be stored in the St. Jude Biorepository. The DNA of the samples will be studied to determine if there are changes in specific genes that might explain the cancers in the participant or their family members. When available, and if consent is given by the participant, previously collected and stored leftover tumor samples, bone marrow samples or stored DNA may be analyzed.

Genetic variants of interest include: 1) mutations in known genes that may have escaped detection through prior clinical genetic testing; 2) coding mutations predicted to disrupt protein function, particularly in genes and pathways known to be associated with cancer; 3) potential mutations in regulatory regions of the genome, as predicted by epigenetic studies. In some cases, individuals with known predisposing mutations exhibit milder, more severe or atypical phenotypes. Family members who harbor a predisposing mutation but are discordant for a cancer phenotype will be selected for cellular and genetic studies. These will include DNA sequencing and possibly also creation and analysis of induce pluripotent stem cells (iPSC), transcriptome or epigenetic analysis.

All samples will be identified by a code after removal of all personal identifiable information. Samples will remain in the repository for current and future study.

Condition gastrointestinal stromal tumors, hodgkin's lymphoma, Rhabdoid Tumor Predisposition Syndrome, Rhabdomyosarcoma, familial adenomatous polyposis, Familial Cancer, Neuroblastoma, type 2 neurofibromatosis, Dyskeratosis Congenita, Adenomatous Polyposis Coli, Hereditary Cancer Syndromes, Chronic Shoulder Pain, pancreatic cancers, Multiple hamartoma syndrome, MYELODYSPLASTIC SYNDROME, hnpcc, Myelodysplastic Syndromes (MDS), Razor Bumps (Pseudofolliculitis Barbae), Pancreatic disorder, gist, hodgkin's lymphomas, neuroblastomas, Neoplasm of unspecified nature of digestive system, Familial Wilms Tumor, men1, Lymphoma, Adrenocortical carcinoma, Sipple's syndrome, Adenocarcinoma, multiple endocrine neoplasia type 1, anll, Wermer Syndrome, melanoma, Hereditary Cancer, Peripheral Arterial Occlusive Disease, hodgkin, Carney Complex, Primary Immunodeficiency, acute leukemias, Lentigo, Lynch Syndrome, Tuberous Sclerosis, Bilateral acoustic neurofibromatosis, Colorectal Cancer, cancer, pancreatic, Pheochromocytoma/Paraganglioma, Retinoblastoma, hodgkins lymphoma, Chronic Diarrhea, Diamond-Blackfan anemia, Pancreatic Cancer, miller-dieker syndrome, Colon cancer; rectal cancer, gastrointestinal stromal tumor, Hereditary Paraganglioma-Pheochromocytoma Syndrome, non-hodgkin's lymphoma (nhl), cancer of the pancreas, Colon Cancer Screening, Peutz-Jeghers Syndrome, Anal Dysplasia, Acute myeloid leukemia, Digestive System Neoplasms, neurofibromatosis type ii, myelodysplastic syndrome (mds), Rothmund-Thomson syndrome, Islet Ce417ll Cancer, MDS, Brain Function, bourneville's disease, Choroid Plexus Carcinoma, Breast Cancer - HER2 Positive, myelodysplastic syndromes, sclerosis, cerebral, Pancreatic Disorders, Familial Neuroblastoma, Metastatic Triple-Negative Breast Cancer, Fanconi Anemia, familial adenomatous polyposis coli, TP53 gene, Acute Myelogenous Leukemia (AML), Emberger Syndrome, neurofibromatosis type 2, Vaginal Atrophy, Hodgkin's Disease, von hippel-lindau disease, fanca, Hereditary Neoplastic Syndrome, Melanoma, Hereditary Breast and Ovarian Cancer, Acute Leukemia, Malignant Adenoma, Fanconi's Anemia, Metastatic Melanoma, Peripheral Neuropathy, Age Spots (Solar Lentigines), DICER1 Syndrome, Noonan Syndrome and Other Rasopathy, Acute Myeloid Leukemia, Pediatric Health, Basal Cell Nevus Syndrome, men2a, Diet and Nutrition, Hereditary Breast and Ovarian Cancer Syndrome, Constitutional Mismatch Repair Deficiency Syndrome, APC gene, Injection Port, Recurrent Respiratory Papillomatosis, acute myeloblastic leukemia, Neurofibromatosis, Near-Sighted Corrective Surgery, Familial Acute Myeloid Leukemia, Malignant Melanoma, hodgkin lymphomas, Juvenile Polyposis, Li-Fraumeni Syndrome, Non-Hodgkin's Lymphoma, von Recklinghausen's Disease, Overgrowth Syndromes, Adverse Effects, Drugs, Von Hippel-Lindau Syndrome, pringle, Skin Wounds, acute myelogenous leukemia, BAP1 Tumor Predisposition Syndrome
Clinical Study IdentifierNCT03050268
SponsorSt. Jude Children's Research Hospital
Last Modified on21 May 2021


Yes No Not Sure

Inclusion Criteria

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 Criteria

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
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