ClinicalTrials.gov record NCT03050268

Familial Investigations of Childhood Cancer Predisposition

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Familial Investigations of Childhood Cancer Predisposition

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This prospective, family-based research registry collects medical and family histories plus biological samples from people with familial or early-onset cancers and their relatives. Samples (blood, saliva, skin when needed, and leftover tumor tissue when available) are stored and analyzed with genomic sequencing and related genetic studies. The project aims to build a linked registry and biorepository to search for genes or genetic variants that may underlie familial cancer. This is research, not a substitute for clinical genetic testing; if you want results usable for medical care, consider seeing a genetic counselor.

What it is studying. Whether genetic changes—known or previously unidentified—help explain why cancer clusters in some families. It also aims to create a registry linked to stored biological samples to support discovery of cancer-predisposing genes and variants.

What the researchers hope to learn. Establish a registry and biorepository linking clinical data to stored blood, DNA, and tumor samples. Use whole genome or exome sequencing and other analyses to identify novel cancer-predisposing genes or genetic variants. Study genetic differences within families (including discordant relatives) to improve understanding of hereditary cancer.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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 below, you may enroll regardless of the results of your clinical genetic testing.
  • DEFINITION OF FAMILIAR CANCER FOR THIS PROTOCOL:
  • In this protocol, the definition of "Familial Cancer" is met if any of the following is present:
  • 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
  • An individual with a rare pediatric cancer or tumor diagnosed before 26 years of age
  • º Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.
  • 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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give medical and family history and provide biological samples (blood is preferred; saliva may be used if blood is not possible). A one-time skin sample may be requested for people who lack pre-transplant germline DNA after an allogeneic bone‑marrow transplant. When available and with consent, previously collected leftover tumor or bone‑marrow samples or stored DNA may be used; participants who agree may be contacted about once a year to update health and family information. Samples are stored in a repository for genetic sequencing and future research; participants may or may not receive individual results, and any results could take years.

How the study is structured. A prospective, family-based observational registry. Participants provide medical and family history information and give biological samples (blood or saliva; skin sample only if needed after bone marrow transplant). Leftover tumor samples may be collected when available. Samples are de-identified, stored, and analyzed using genomic sequencing and related laboratory studies; participants who agree may be asked for yearly health updates.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

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Important dates

Study start
Apr 6, 2017
Primary completion
Mar 31, 2037 (estimated)
Study completion
Mar 31, 2037 (estimated)
Target enrollment
1500 participants (estimated)
Last updated on registry
Jun 17, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
St. Jude Children's Research Hospital

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

eligibility criteria
The rules the study team uses to decide who may take part. They are usually split into inclusion criteria and exclusion criteria.
Registry
An organised collection of information about people with a particular condition, gathered over time for research. Joining a registry usually means sharing medical information, not receiving a treatment.
PRIMARY OBJECTIVE
The main result the study is designed to measure and report on. Other results, called secondary outcomes, are also collected.
SECONDARY OBJECTIVE
An additional result the study measures alongside the primary outcome, for example quality of life or a laboratory value.
legally authorized representative
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
written informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
INCLUSION CRITERIA
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
EXCLUSION CRITERIA
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
bone marrow transplant
A procedure that replaces blood-forming cells after high-dose treatment. 'Autologous' uses the person's own cells collected beforehand; 'allogeneic' uses cells from a donor.
Biorepository
A collection of biological samples, such as blood or tissue, stored with medical information so that researchers can study them later.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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