Recruiting

Observational Study

Sponsor:

National Cancer Institute (NCI)

Code:

NCT05350761

Conditions

Cancer

Hereditary Neoplasms

Genetic Predisposition to Cancer

Environment

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

Background:

Some people may be prone to develop cancer for many reasons. Factors that affect their risk include the genes they inherit and the environment they live and work in. Researchers want to learn more about the natural history of cancer.

Objective:

To understand how genes and environmental factors can cause tumors and related conditions.

Eligibility:

People of any age who:

Have tumors of an unusual type, pattern, or number

Have a family member with a history of cancer

Have been exposed to other factors that may increase their risk of cancer

Design:

This study does not involve treatment.

Participants will answer questions about their personal and family medical history. They will give permission for researchers to see their medical records.

Participants may be invited to the NIH Clinical Center for a physical exam. They may give samples including saliva, cheek cells, blood, urine, skin, and/or hair.

Participants with cancer may give bone marrow. A needle will be used to remove a small sample of bone marrow from their hip bone.

Participants may have a biopsy of their tumor.

Participants may have other exams:

Dental

Ear, nose, and throat

Eye

Hearing

Heart function and structure

Participants with cancer may undergo more exams:

A test of how much energy their body uses when resting

A sleep study with a test that measures brain electrical activity. They will have sensors attached to their body while they sleep overnight in a lab.

Imaging scans, such as CT, MRI, a test to measure how dense their bones are (DEXA), and ultrasound.

Participants will have their genes tested. A counsellor will help them understand the results.

Participants will be followed until at least 2035.

Conditions

Cancer

Hereditary Neoplasms

Genetic Predisposition to Cancer

Environment

Study ID

NCT05350761

Start date

Mar 10, 2023

Status verified date

Aug 26, 2026

Completion date

Dec 31, 2035

Anticipated

Primary completion date

Dec 31, 2035

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA:

Although specific familial syndromes vary in prevalence by sex, race or ethnicity, no one is excluded from participation by sex, gender, race or ethnicity. Since families participate in studies, the sex distribution is essentially balanced, and all ages are included. Minor children below the age of assent are actively studied only when the benefits of participation outweigh the risks.

Affected: An individual who meets any of the following criteria will be eligible to participate in this study:

1. Personal medical history of neoplasia of an unusual type, pattern, or number; or,
2. Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,

diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).
3. There is no age restriction; therefore including viable neonates However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.
4. Participant or their Legally Authorized Representative (LAR) must sign and date an IRB approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)

Unaffected Controls: An individual who meets any of the following criteria will be eligible to participate in this study:

1. Family medical history of neoplasia of an unusual type, pattern, or number; or,
2. Known or suspected factor(s) predisposing to neoplasia, either genetic and/or congenital factors (birth defects, metabolic phenotype, chromosomal anomalies or Mendelian traits associated with tumors), environmental exposure (medications, occupation, radiation,

diet, infectious agents, etc.), or unusual demographic features (very young age of onset, multiple tumors, etc.).
3. There is no age restriction; therefore including viable neonates. However, children < 3 years old will not come to the Clinical Center unless clinically indicated until they are >= 3 years old.
4. Participant or their LAR must sign and date an IRB-approved informed consent form (signed on paper or electronically for the Field Cohort / signed on paper for the Clinic Center Cohort)

Personal and family medical history will be verified through questionnaires, interviews, and review of pathology slides and medical records. For familial neoplasms, two or more living affected cases among family members are required. The types of suspected factors predisposing to neoplasia and/or familial tumors under active accrual and study will be investigator- and hypothesis-driven. This approach permits CGB investigators to remain alert to the opportunities afforded by clusters of rare tumors in families and individuals, and to be more responsive to the dynamic research priorities in cancer genetics.

EXCLUSION CRITERIA:

Affected: An individual who meets any of the following criteria will be excluded from participation in this study:

1. Referred individuals for whom reported diagnoses cannot be verified
2. Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
3. Referred individuals who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma) Unaffected Controls: An individual who meets any of the following criteria will be excluded

from participation in this study:

1. Referred families for whom reported diagnoses cannot be verified
2. Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
3. Referred families who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma)

Study Design

Enrollment

500 participants

Anticipated

Interventions and Outcome Measures

Arms

Clinical Center Cohort

includes Proband, Other carriers in family, Family Controls

Field Cohort

includes Proband, Other carriers in family, Family Controls

Primary outcome measure

  • Defining the natural history of familial cancers and susceptibility states over multiple generations, identifying cancer susceptibility genes, and assessing gene-environment and gene-gene interactions [ Time Frame: Ongoing ]

Central Contacts and Locations

Central contacts

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

NIH National Cancer Institute - Shady Grove

Recruiting

Rockville, Maryland, United States, 20850

More Information

Sponsor

National Cancer Institute (NCI)

Last update posted

Sep 2, 2026

Last verified

Aug 26, 2026

Keywords

  • Cancer
  • Genes/Genetics
  • Hereditary Neoplasms
  • Environment
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Cancer Institute (NCI) on 2026-09-02.