Familial Investigations of Childhood Cancer Predisposition

  • STATUS
    Recruiting
  • End date
    Mar 31, 2037
  • participants needed
    3000
  • sponsor
    St. Jude Children's Research Hospital
Updated on 21 May 2021
cancer
biological factors
genetic testing
childhood cancer
familial cancer

Summary

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.

PRIMARY OBJECTIVE:

  • 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.

SECONDARY OBJECTIVE:

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

Description

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.

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

Eligibility

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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