Recruiting

Observational Study

Sponsor:

St. Jude Children's Research Hospital

Code:

NCT03050268

Conditions

Acute Leukemia

Adenomatous Polyposis

Adrenocortical Carcinoma

AML

BAP1 Tumor Predisposition Syndrome

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Study Details

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

Acute Leukemia

Adenomatous Polyposis

Adrenocortical Carcinoma

AML

BAP1 Tumor Predisposition Syndrome

Study ID

NCT03050268

Start date

Apr 6, 2017

Status verified date

Jun, 2026

Completion date

Mar 31, 2037

Anticipated

Primary completion date

Mar 31, 2037

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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

ยบ Excluding human papilloma virus-associated cervical cancer and non-melanoma skin cancer occurring in adults.

INCLUSION CRITERIA:

  • 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 Design

Enrollment

1500 participants

Anticipated

Interventions and Outcome Measures

Primary outcome measure

  • Identification of novel cancer predisposing genes [ Time Frame: Up to 20 years following study activation ]

Central Contacts and Locations

Central contacts

Kim E. Nichols, MD

888-226-4343referralinfo@stjude.org

Locations

St. Jude Children's Research Hospital

Recruiting

Memphis, Tennessee, United States, 38105

Contacts

Kim E. Nichols, MD

888-226-4343referralinfo@stjude.org

Principal Investigator:

Kim E. Nichols, MD

More Information

Sponsor

St. Jude Children's Research Hospital

Last update posted

Jun 17, 2026

Last verified

Jun, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by St. Jude Children's Research Hospital on 2026-06-17.