Familial Investigations of Childhood Cancer Predisposition

ConditionsAcute 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

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorSt. Jude Children's Research Hospital

About this trial

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.

Eligibility criteria

Qualifiers

An individual with a history of cancer diagnosed under 26 years of age who has at least one first, second or third degree relative with a history of cancer diagnosed under 51 years of age; OR

An individual who has been diagnosed with more than one cancer, at least one of which was diagnosed under 26 years of age; OR

An individual with a clinical or molecular diagnosis of a known cancer predisposition syndrome; OR

An individual with a congenital cancer diagnosed before 6 months of age; OR

Disqualifiers

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.

Trial design

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Locations

St. Jude Children's Research Hospital38105, MemphisTennessee, United States

Sponsors and collaborators

St. Jude Children's Research Hospital

Lead sponsor

Source ClinicalTrials.gov