Recruitment

Recruitment Status
Recruiting
Estimated Enrollment
Same as current

Summary

Conditions
  • Familial Acute Myeloid Leukemia
  • Choroid Plexus Carcinoma
  • Acute Leukemia
  • Adenomatous Polyposis
  • Von Hippel-Lindau Disease
  • Adrenocortical Carcinoma
  • AML
  • BAP1 Tumor Predisposition Syndrome
  • Multiple Endocrine Neoplasia Type 1
  • Rothmund-Thomson Syndrome
  • Carney Complex
  • Hereditary Paraganglioma-Pheochromocytoma Syndrome
  • PTEN Hamartoma Tumor Syndrome
  • Rhabdoid Tumor Predisposition Syndrome
  • Noonan Syndrome and Other Rasopathy
  • Li Fraumeni Syndrome
  • GIST
  • Constitutional Mismatch Repair Deficiency Syndrome
  • Hereditary Breast and Ovarian Cancer
  • Fanconi Anemia
  • Tuberous Sclerosis
  • Hodgkin Lymphoma
  • Peutz Jeghers Syndrome
  • Diamond Blackfan Anemia
  • Neuroblastoma
  • Non Hodgkin Lymphoma
  • DICER1 Syndrome
  • Overgrowth Syndromes
  • Pheochromocytoma/Paraganglioma
  • Nevoid Basal Cell Carcinoma Syndrome
  • MDS
  • Melanoma Syndrome
  • Familial Cancer
  • Multiple Endocrine Neoplasia Type 2
  • Neurofibromatosis Type II
  • Familial Neuroblastoma
  • Retinoblastoma
  • Dyskeratosis Congenita
  • Neurofibromatosis Type 1
  • Rhabdomyosarcoma
  • Emberger Syndrome
  • Juvenile Polyposis
  • Pancreatic Cancer
  • Lynch Syndrome
  • Familial Wilms Tumor
  • Familial Adenomatous Polyposis
Type
Observational
Design
Observational Model: Family-BasedTime Perspective: Prospective

Participation Requirements

Age
Younger than 125 years
Gender
Both males and females

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...

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.

Tracking Information

NCT #
NCT03050268
Collaborators
Not Provided
Investigators
Principal Investigator: Kim E. Nichols, MD St. Jude Children's Research Hospital