Familial Investigations of Childhood Cancer Predisposition

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

• 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

Sponsors & Collaborators

• St. Jude Children's Research Hospital

  lead OTHER

Principal Investigators

• Kim E. Nichols, MD · St. Jude Children's Research Hospital

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2017-04-06

Primary Completion

2037-03-31

Completion

2037-03-31

Countries

• United States

Study Locations