CancerNCT05350761
Rare Tumors and Cancer Predisposition in Individuals and Families
An observational study of Cancer and Hereditary Neoplasms, run by National Cancer Institute (NCI) at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 year to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Cancer, Hereditary Neoplasms, Genetic Predisposition to Cancer
- How many people
- 500 participants
- Where
- 2 sitesUnited States
- Study dates
- 10 Mar 2023to 31 Dec 2035
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 year to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: primary clinical; volunteers come from all across the U.S.
Who may be able to join
- 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:
- Personal medical history of neoplasia of an unusual type, pattern, or number; or,
- 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.).
- 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.
Show all 14Show fewer
- 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:
- Family medical history of neoplasia of an unusual type, pattern, or number; or,
- 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.).
- 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.
- 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.
Who cannot join
- Affected: An individual who meets any of the following criteria will be excluded from participation in this study:
- Referred individuals for whom reported diagnoses cannot be verified
- Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
- 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:
- Referred families for whom reported diagnoses cannot be verified
- Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
- Referred families who are eligible for other CGB protocols that are specific to a hereditary cancer syndrome (e.g., Li-Fraumeni Syndrome, Familial Melanoma)
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
- Recruiting
NIH National Cancer Institute - Shady Grove
Rockville, Maryland, 20850
About this study
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.
Read more
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.
Read the detailed description
Study Description: The overall purpose of this study is to comprehensively and longitudinally evaluate the natural history of participants with rare tumors, genetic syndromes, genetic variants, and/or family history consistent with or hypothesized to contribute to predisposition to cancer(s) of interest to DCEG investigators. It will also facilitate evaluation of patients who may be candidates for other NIH Clinical Center (CC) clinical trials. These individuals and families will be evaluated and followed longitudinally to define the clinical spectrum (e.g., disease course, cancer risks, response to therapies, survival) and other phenotypic manifestations associated with rare tumors, genetic variants, and cancer predisposition syndromes.
Objectives:
- To evaluate and define the clinical spectrum (phenotype), penetrance and natural history of disease in syndromes predisposing to cancer;
- To evaluate the phenotypes and natural history arising from known -or suspected- pathogenic germline variants in known -or suspected cancer-susceptibility genes;
- To evaluate potential neoplastic precursor conditions in individuals and families at risk of cancer;
- To quantify site-specific risks of such tumors in family members;
- To discover, map, and determine inheritance patterns and functions of cancer susceptibility genes;
- To identify etiologically or clinically relevant changes to the somatic genome in these patients;
- To educate and counsel study participants about cancer risk including quantitative risk assessment and communication; prevention and surveillance recommendations; early detection activities; and management recommendations, when known.
- To facilitate and enhance enrollment in interventional clinical trials within the NCI or other Institutes.
Endpoints:
Primary Endpoint: The general goals of the research conducted under this protocol are to:
- Discover germline cancer susceptibility genes
- Define the natural history and clinical spectrum of disease in high risk cancer susceptibility families
- Define potential precursor states
- Quantify risks of cancers in family members
- Identify differences between familial and sporadic neoplasia
- Identify genetic determinants, environmental risk factors, gene-environment, and gene-gene interactions in high risk families
- Characterize the somatic genome of tumors from participants.
Secondary Endpoints:
- Define penetrance of tumors in family members
- Create full protocols for specific tumors or syndromes based on the pilot studies conducing within this study
- Keywords
- Cancer, Genes/Genetics, Hereditary Neoplasms, Environment, Natural History
- Medical subject headings
- Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Clinical Center Cohort | includes Proband, Other carriers in family, Family Controls | |
| Field Cohort | includes Proband, Other carriers in family, Family Controls |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
New cancer development or current health status
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Apr 2022
- Study start10 Mar 2023
- Primary completion31 Dec 2035 (estimated)
- Study completion31 Dec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CancerStudies of the same condition, open and under way.
- More trials run by National Cancer Institute (NCI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Other
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Cancer Institute (NCI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Sharon A Savage, M.D., Principal investigator, National Cancer Institute (NCI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05350761
- Sponsor's protocol ID
- 10000678
- Other IDs
- 000678-C
- Status last verified
- 27 Oct 2026
- First submitted
- 26 Apr 2022
- Last updated
- 3 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Genotype and sequence data along with clinical phenotypes will be deposited in a genomic database in accordance with current NIH Genomic Data Sharing (GDS) Policy and the NIH Human Data Sharing Policy.@@@@@@@@@@@@The following human data generated in this research will be shared for future research as follows:@@@@@@@@@@@@De-identified data in an NIH-funded or approved public repository.@@@@@@@@@@@@De-identified data in BTRIS (automatic for activities in the Clinical Center)@@@@@@@@@@@@De-identified or identified data with approved outside collaborators under appropriate agreements.@@@@@@@@@@@@The data will be shared at the time of publication or shortly after.@@@@@@@@@@@@Unlinked genomic data will be deposited in public genomic databases such as dbGaP in compliance with the NIH Genomic Data Sharing Policy.
Study at a glance
From the registry record, last updated by the sponsor on 3 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Rare Tumors and Cancer Predisposition in Individuals and Families
- ClinicalTrials.gov ID
- NCT05350761
- Acronym / sponsor ID
- 10000678
- Keywords
- Cancer, Genes/Genetics, Hereditary Neoplasms, Environment, Natural History
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- National Cancer Institute (NCI)US National Institutes of Health
- Study start
- 10 Mar 2023 (actual)
- Primary completion
- 31 Dec 2035 (estimated)
- Study completion
- 31 Dec 2035 (estimated)
- First posted
- 28 Apr 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Description: The overall purpose of this study is to comprehensively and longitudinally evaluate the natural history of participants with rare tumors, genetic syndromes, genetic variants, and/or family history consistent with or hypothesized to contribute to predisposition to cancer(s) of interest to DCEG investigators. It will also facilitate evaluation of patients who may be candidates for other NIH Clinical Center (CC) clinical trials. These individuals and families will be evaluated and followed longitudinally to define the clinical spectrum (e.g., disease course, cancer risks, response to therapies, survival) and other phenotypic manifestations associated with rare tumors, genetic variants, and cancer predisposition syndromes.
Objectives:
- To evaluate and define the clinical spectrum (phenotype), penetrance and natural history of disease in syndromes predisposing to cancer;
- To evaluate the phenotypes and natural history arising from known -or suspected- pathogenic germline variants in known -or suspected cancer-susceptibility genes;
- To evaluate potential neoplastic precursor conditions in individuals and families at risk of cancer;
- To quantify site-specific risks of such tumors in family members;
- To discover, map, and determine inheritance patterns and functions of cancer susceptibility genes;
- To identify etiologically or clinically relevant changes to the somatic genome in these patients;
- To educate and counsel study participants about cancer risk including quantitative risk assessment and communication; prevention and surveillance recommendations; early detection activities; and management recommendations, when known.
- To facilitate and enhance enrollment in interventional clinical trials within the NCI or other Institutes.
Endpoints:
Primary Endpoint: The general goals of the research conducted under this protocol are to:
- Discover germline cancer susceptibility genes
- Define the natural history and clinical spectrum of disease in high risk cancer susceptibility families
- Define potential precursor states
- Quantify risks of cancers in family members
- Identify differences between familial and sporadic neoplasia
- Identify genetic determinants, environmental risk factors, gene-environment, and gene-gene interactions in high risk families
- Characterize the somatic genome of tumors from participants.
Secondary Endpoints:
- Define penetrance of tumors in family members
- Create full protocols for specific tumors or syndromes based on the pilot studies conducing within this study
Study design
- Observational model
- Family based
- Time perspective
- Other
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Clinical Center Cohort | – | –includes Proband, Other carriers in family, Family Controls |
| Field Cohort | – | –includes Proband, Other carriers in family, Family Controls |
Who may qualify
- Ages
- 1 year to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- primary clinical; volunteers come from all across the U.S.
Key inclusion criteria (14 listed)
- 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:
- Personal medical history of neoplasia of an unusual type, pattern, or number; or,
- 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.).
Key exclusion criteria (8 listed)
- Affected: An individual who meets any of the following criteria will be excluded from participation in this study:
- Referred individuals for whom reported diagnoses cannot be verified
- Inability of the participant or LAR to understand and be willing to sign a written informed consent document.
- 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
- Referred families for whom reported diagnoses cannot be verified
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
New cancer development or current health status
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Genotype and sequence data along with clinical phenotypes will be deposited in a genomic database in accordance with current NIH Genomic Data Sharing (GDS) Policy and the NIH Human Data Sharing Policy.@@@@@@@@@@@@The following human data generated in this research will be shared for future research as follows:@@@@@@@@@@@@De-identified data in an NIH-funded or approved public repository.@@@@@@@@@@@@De-identified data in BTRIS (automatic for activities in the Clinical Center)@@@@@@@@@@@@De-identified or identified data with approved outside collaborators under appropriate agreements.@@@@@@@@@@@@The data will be shared at the time of publication or shortly after.@@@@@@@@@@@@Unlinked genomic data will be deposited in public genomic databases such as dbGaP in compliance with the NIH Genomic Data Sharing Policy.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Sharon A Savage, M.D. principal investigator
National Cancer Institute (NCI)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cancer and Hereditary Neoplasms, run by National Cancer Institute (NCI) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 14 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact NCI Family Study Referrals ((800) 518-8474, ncifamilystudyreferrals@mail.nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Nov 2026.