Familial Investigations of Childhood Cancer Predisposition

NCT03050268 | Recruiting

• 1 other identifier: SJFAMILY
• Study Type: observational
• Target: 1,500
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Adenomatous Polyposis; Adrenocortical Carcinoma; 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; 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; 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; Acute Leukemia; AML; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hereditary Breast and Ovarian Cancer; Non Hodgkin Lymphoma

Keywords

Familial cancer; Genetic predisposition; Heritable disease; Cancer risk; Genome analysis; Genetic modifiers; Next generation sequencing (NGS); Genetic counseling; DNA

Outcome Measures

Primary Outcomes (1)

• Identification of novel cancer predisposing genes

  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.

  Up to 20 years following study activation

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants with cancer and their family members who meet the eligibility criteria shown below.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• St. Jude Children's Research Hospital: lead

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

RECRUITING

Related Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Biospecimen

Retention: SAMPLES WITH DNA

Blood, skin or saliva samples and leftover tumor samples.

MeSH Terms

Conditions

Adenomatous Polyposis Coli; Adrenocortical Carcinoma; Carney Complex; Choroid Plexus Carcinoma; Turcot syndrome; Anemia, Diamond-Blackfan; Dyskeratosis Congenita; GATA2 Deficiency; Fanconi Anemia; Hereditary Breast and Ovarian Cancer Syndrome; Hodgkin Disease; Juvenile polyposis syndrome; Li-Fraumeni Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; Melanoma; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2a; Neuroblastoma; Neurofibromatosis 1; Neurofibromatosis 2; Basal Cell Nevus Syndrome; Lymphoma, Non-Hodgkin; Noonan Syndrome; Pancreatic Neoplasms; Peutz-Jeghers Syndrome; Pheochromocytoma; Paraganglioma; Hamartoma Syndrome, Multiple; Retinoblastoma; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; von Hippel-Lindau Disease; Genetic Predisposition to Disease

Condition Hierarchy (Ancestors)

Adenomatous Polyps; Adenoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Colorectal Neoplasms; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Intestinal Polyposis; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Adenocarcinoma; Carcinoma; Adrenal Cortex Neoplasms; Adrenal Gland Neoplasms; Endocrine Gland Neoplasms; Adrenal Cortex Diseases; Adrenal Gland Diseases; Endocrine System Diseases; Myxoma; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Heart Neoplasms; Thoracic Neoplasms; Heart Diseases; Cardiovascular Diseases; Abnormalities, Multiple; Congenital Abnormalities; Skin Abnormalities; Anemia, Hypoplastic, Congenital; Anemia, Aplastic; Anemia; Hematologic Diseases; Hemic and Lymphatic Diseases; Red-Cell Aplasia, Pure; Congenital Bone Marrow Failure Syndromes; Bone Marrow Failure Disorders; Bone Marrow Diseases; Genetic Diseases, X-Linked; Skin Diseases, Genetic; Skin Diseases; Skin and Connective Tissue Diseases; Myelodysplastic Syndromes; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Breast Neoplasms; Ovarian Neoplasms; Ovarian Diseases; Adnexal Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Neoplasms, Female; Urogenital Neoplasms; Genital Diseases; Breast Diseases; Gonadal Disorders; Lymphoma; Lymphoproliferative Disorders; Lymphatic Diseases; Immunoproliferative Disorders; Immune System Diseases; Neuroendocrine Tumors; Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms, Nerve Tissue; Nevi and Melanomas; Skin Neoplasms; Multiple Endocrine Neoplasia; Neoplasms, Multiple Primary; Neuroectodermal Tumors, Primitive, Peripheral; Neuroectodermal Tumors, Primitive; Neoplasms, Neuroepithelial; Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Neuroma, Acoustic; Neurilemmoma; Neuroma; Vestibulocochlear Nerve Diseases; Retrocochlear Diseases; Ear Diseases; Otorhinolaryngologic Diseases; Otorhinolaryngologic Neoplasms; Cranial Nerve Neoplasms; Cranial Nerve Diseases; Odontogenic Cysts; Jaw Cysts; Bone Cysts; Cysts; Carcinoma, Basal Cell; Neoplasms, Basal Cell; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Jaw Diseases; Stomatognathic Diseases; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Heart Defects, Congenital; Cardiovascular Abnormalities; Connective Tissue Diseases; Pancreatic Diseases; Lentigo; Melanosis; Hyperpigmentation; Pigmentation Disorders; Hamartoma; Retinal Neoplasms; Eye Neoplasms; Eye Diseases, Hereditary; Eye Diseases; Retinal Diseases; Myosarcoma; Neoplasms, Muscle Tissue; Sarcoma; Infant, Newborn, Diseases; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations; Angiomatosis; Vascular Diseases; Ciliopathies; Disease Susceptibility; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Kim E. Nichols, MD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kim E. Nichols, MD

CONTACT

888-226-4343; referralinfo@stjude.org

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 8, 2017
• First Posted: February 10, 2017
• Study Start: April 6, 2017
• Primary Completion (Estimated): March 31, 2037
• Study Completion (Estimated): March 31, 2037
• Last Updated: April 23, 2026

Record last verified: 2026-04

Locations

US (1)