CancerNCT03922893
Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer
An observational study of Cancer, run by Memorial Sloan Kettering Cancer Center at 7 sites in United States.
Trial summary
This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for cancer or treat the cancer earlier. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Cancer
- What is being tested?
- Family History Information, ORAGENE and Blood
- How many people
- 1,500 participants
- Where
- 7 sitesUnited States
- Study dates
- 17 Apr 2019to Apr 2029
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Potential participants will be identified by members of the Clinical Genetics Service from the following sources: a) MSK patients previously tested through MSK IMPACT #12-245 protocol; b) MSK patients referred to the Clinical Genetics Service by an MSK physician, outside physician, or self-referral; c) non-MSKCC patients referred or self-referred to the Clinical Genetics Service or directly to the P.I. and identified as candidates for participation in this study; d) family members of probands identified by the study team to be informative for research purposed.
Who may be able to join
- Individuals who have undergone clinical and/or research genetic evaluation, found to have or not have a germline genetic variant (pathogenic, likely pathogenic, variant of uncertain/unknown significance, likely benign).
- Individuals with or without a personal history of malignant or pre-malignant lesions who demonstrate: a) clinical findings suggestive of a genetic cancer susceptibility syndrome including very early age at onset, multiple primary malignancies, or other features; and/or b) family histories suggestive of a genetic cancer susceptibility syndrome, or c) other features suggesting inherited etiology of malignancy as determined by the PI.
- Family members of the above participants. Both children (with parental consent as age appropriate) and adults are eligible to participation.
- Individuals may or may not be enrolled MSK patients; probands may be referred to (or self-referred to) the study and may be enrolled at discretion of the PI and if able to provide informed consent.
- Biospecimens derived from deceased family members may be used for research in this study if consent if provided by the executor of the estate of that individual.
Who cannot join
- Patients will be excluded from this study if he/she has physical, cognitive or psychiatric conditions that interfere with ability to give meaningful informed consent.
Trial locations and contacts
7 sites in 1 country. Contact the study team or a site near you to ask about taking part.
7 sites in 1 country
United States7 sites, 7 recruiting
- Recruiting
Memorial Sloan Kettering Basking Ridge (Consent only)
Basking Ridge, New Jersey, 07920
Kenneth Offit, MD, MPH, 646-888-4059
- Recruiting
Memorial Sloan Kettering Cancer Center @ Commack (Consent Only)
Commack, New York, 11725
Kenneth Offit, MD, MPH, 646-888-4059
- Recruiting
Memorial Sloan Kettering Westchester (Consent only)
Harrison, New York, 10604
Kenneth Offit, MD, MPH, 646-888-4059
- Recruiting
Memorial Sloan Kettering Monmouth (Consent only)
Middletown, New Jersey, 07748
Kenneth Offit, MD, MPH, 646-888-4059
- Recruiting
Memorial Sloan Kettering Bergen (Consent only )
Montvale, New Jersey, 07645
Kenneth Offit, MD, MPH, 646-888-4059
- Recruiting
Memorial Sloan Kettering Cancer Center
New York, New York, 10065
Kenneth Offit, MD, MPH, 646-888-4059
- Recruiting
Memorial Sloan Kettering Nassau (Consent only)
Uniondale, New York, 11553
Kenneth Offit, MD, MPH, 646-888-4059
About this study
Official title: Discovery and Characterization of Susceptibility Genes in Adults and Children With Suspected Hereditary Cancer Predisposition
This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for cancer or treat the cancer earlier.
- Conditions
- Cancer
- Being tested
- Family History Information, ORAGENE, Blood, Skin Biopsy
- Keywords
- Genetic evaluation, Germline genetic variant, Genetic cancer, Memorial Sloan Kettering Cancer Center, 19-133
- Medical subject headings
- Neoplasms
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Family History InformationOther
The family history ascertainment focuses on self-reported family history of first-, second-, and third-degree family members, including types of malignancies/ pre-malignant lesions and age at diagnosis.
ORAGENEGenetic
Also called Saliva
Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.
BloodGenetic
For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis
Skin BiopsyOther
In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.
| Study group | Role | What they receive |
|---|---|---|
| Proband | First individual in a family to consent to this protocol Receives: Other: Family History Information; Genetic: ORAGENE; Genetic: Blood; Other: Skin Biopsy | |
| Family Member Participants | Family members of the proband will be approached to consent to this protocol Receives: Other: Family History Information; Genetic: ORAGENE; Genetic: Blood; Other: Skin Biopsy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Discovery of novel cancer susceptibility genes
Measured: Up to 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Apr 2019
- Study start17 Apr 2019
- Primary completionApr 2029 (estimated)
- Study completionApr 2029 (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 Memorial Sloan Kettering Cancer CenterThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Memorial Sloan Kettering Cancer Center
- Sponsor type
- University, hospital or other
- Collaborators
- New York Genome Center
- Responsible party
- Sponsor
- Investigators
- Kenneth Offit, MD, MPH, Principal investigator, Memorial Sloan Kettering Cancer Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03922893
- Sponsor's protocol ID
- 19-133
- Status last verified
- Dec 2025
- First submitted
- 18 Apr 2019
- Last updated
- 15 Dec 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Memorial Sloan Kettering Cancer Center supports the international committee of medical journal editors (ICMJE) and the ethical obligation of responsible sharing of data from clinical trials. The protocol summary, a statistical summary, and informed consent form will be made available on clinicaltrials.gov when required as a condition of Federal awards, other agreements supporting the research and/or as otherwise required. Requests for deidentified individual participant data can be made beginning 12 months after publication and for up to 36 months post publication. Deidentified individual participant data reported in the manuscript will be shared under the terms of a Data Use Agreement and may only be used for approved proposals. Requests may be made to: crdatashare@mskcc.org.
Study at a glance
From the registry record, last updated by the sponsor on 15 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Discovery and Characterization of Susceptibility Genes in Adults and Children With Suspected Hereditary Cancer Predisposition
- ClinicalTrials.gov ID
- NCT03922893
- Acronym / sponsor ID
- 19-133
- Conditions
- Cancer
- Keywords
- Genetic evaluation, Germline genetic variant, Genetic cancer, Memorial Sloan Kettering Cancer Center, 19-133
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- Memorial Sloan Kettering Cancer CenterUniversity, hospital or other
- Collaborators
- New York Genome Center
- Study start
- 17 Apr 2019 (actual)
- Primary completion
- Apr 2029 (estimated)
- Study completion
- Apr 2029 (estimated)
- First posted
- 22 Apr 2019 (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.
This study is being done to attempt to identify genetic mutations or other gene-based variations in adults and children who have cancer, or are likely to develop an inherited form of cancer, and potentially reduce their risk for cancer or treat the cancer earlier.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Proband | – | Other: Family History Information, Genetic: ORAGENE, Genetic: Blood, Other: Skin BiopsyFirst individual in a family to consent to this protocol |
| Family Member Participants | – | Other: Family History Information, Genetic: ORAGENE, Genetic: Blood, Other: Skin BiopsyFamily members of the proband will be approached to consent to this protocol |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Potential participants will be identified by members of the Clinical Genetics Service from the following sources: a) MSK patients previously tested through MSK IMPACT #12-245 protocol; b) MSK patients referred to the Clinical Genetics Service by an MSK physician, outside physician, or self-referral; c) non-MSKCC patients referred or self-referred to the Clinical Genetics Service or directly to the P.I. and identified as candidates for participation in this study; d) family members of probands identified by the study team to be informative for research purposed.
Key inclusion criteria (5 listed)
- Individuals who have undergone clinical and/or research genetic evaluation, found to have or not have a germline genetic variant (pathogenic, likely pathogenic, variant of uncertain/unknown significance, likely benign).
- Individuals with or without a personal history of malignant or pre-malignant lesions who demonstrate: a) clinical findings suggestive of a genetic cancer susceptibility syndrome including very early age at onset, multiple primary malignancies, or other features; and/or b) family histories suggestive of a genetic cancer susceptibility syndrome, or c) other features suggesting inherited etiology of malignancy as determined by the PI.
- Family members of the above participants. Both children (with parental consent as age appropriate) and adults are eligible to participation.
- Individuals may or may not be enrolled MSK patients; probands may be referred to (or self-referred to) the study and may be enrolled at discretion of the PI and if able to provide informed consent.
- Biospecimens derived from deceased family members may be used for research in this study if consent if provided by the executor of the estate of that individual.
Key exclusion criteria (1 listed)
- Patients will be excluded from this study if he/she has physical, cognitive or psychiatric conditions that interfere with ability to give meaningful informed consent.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Family History InformationThe family history ascertainment focuses on self-reported family history of first-, second-, and third-degree family members, including types of malignancies/ pre-malignant lesions and age at diagnosis. | Other | Family Member Participants, Proband |
| ORAGENEAlso: SalivaApproximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices. | Genetic | Family Member Participants, Proband |
| BloodFor select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis | Genetic | Family Member Participants, Proband |
| Skin BiopsyIn certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy. | Other | Family Member Participants, Proband |
Primary outcome
Discovery of novel cancer susceptibility genes
Time frame: Up to 10 years
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 15 Dec 2025.
- Memorial Sloan Kettering Cancer CenterLink provided by the sponsor.
- Individual participant dataSharing planned: Yes. Memorial Sloan Kettering Cancer Center supports the international committee of medical journal editors (ICMJE) and the ethical obligation of responsible sharing of data from clinical trials. The protocol summary, a statistical summary, and informed consent form will be made available on clinicaltrials.gov when required as a condition of Federal awards, other agreements supporting the research and/or as otherwise required. Requests for deidentified individual participant data can be made beginning 12 months after publication and for up to 36 months post publication. Deidentified individual participant data reported in the manuscript will be shared under the terms of a Data Use Agreement and may only be used for approved proposals. Requests may be made to: crdatashare@mskcc.org.
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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.
Kenneth Offit, MD, MPH principal investigator
Memorial Sloan Kettering Cancer Center
7 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, run by Memorial Sloan Kettering Cancer Center at 7 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 5 inclusion and 1 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 15 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 7 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 Kenneth Offit, MD, MPH (646-888-4059, offitk@mskcc.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Discovery of novel cancer susceptibility genes (time frame: Up to 10 years). 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 15 Dec 2025.