Discovering New Genetic Markers in Adults and Children Who May Be At Risk for Hereditary Forms of Cancer

NCT ID: NCT03922893

Last Updated: 2025-12-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

1500 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-04-17

Study Completion Date

2029-04-30

Brief Summary

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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.

Detailed Description

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Conditions

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Cancer

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Proband

First individual in a family to consent to this protocol

Family History Information

Intervention Type OTHER

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.

ORAGENE

Intervention Type GENETIC

Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.

Blood

Intervention Type GENETIC

For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis

Skin Biopsy

Intervention Type OTHER

In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.

Family Member Participants

Family members of the proband will be approached to consent to this protocol

Family History Information

Intervention Type OTHER

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.

ORAGENE

Intervention Type GENETIC

Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.

Blood

Intervention Type GENETIC

For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis

Skin Biopsy

Intervention Type OTHER

In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.

Interventions

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Family History Information

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.

Intervention Type OTHER

ORAGENE

Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.

Intervention Type GENETIC

Blood

For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis

Intervention Type GENETIC

Skin Biopsy

In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.

Intervention Type OTHER

Other Intervention Names

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Saliva

Eligibility Criteria

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Inclusion Criteria

* 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.

Exclusion Criteria

* 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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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New York Genome Center

OTHER

Sponsor Role collaborator

Memorial Sloan Kettering Cancer Center

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Kenneth Offit, MD, MPH

Role: PRINCIPAL_INVESTIGATOR

Memorial Sloan Kettering Cancer Center

Locations

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Memorial Sloan Kettering Basking Ridge (Consent only)

Basking Ridge, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Monmouth (Consent only)

Middletown, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Bergen (Consent only )

Montvale, New Jersey, United States

Site Status RECRUITING

Memorial Sloan Kettering Cancer Center @ Commack (Consent Only)

Commack, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Westchester (Consent only)

Harrison, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Cancer Center

New York, New York, United States

Site Status RECRUITING

Memorial Sloan Kettering Nassau (Consent only)

Uniondale, New York, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Kenneth Offit, MD, MPH

Role: CONTACT

646-888-4059

Mark Robson, MD

Role: CONTACT

646-888-5486

Facility Contacts

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Kenneth Offit, MD, MPH

Role: primary

646-888-4059

Kenneth Offit, MD, MPH

Role: primary

646-888-4059

Kenneth Offit, MD, MPH

Role: primary

646-888-4059

Kenneth Offit, MD, MPH

Role: primary

646-888-4059

Kenneth Offit, MD, MPH

Role: primary

646-888-4059

Kenneth Offit, MD, MPH

Role: primary

646-888-4059

Kenneth Offit, MD, MPH

Role: primary

646-888-4059

Related Links

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http://www.mskcc.org

Memorial Sloan Kettering Cancer Center

Other Identifiers

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19-133

Identifier Type: -

Identifier Source: org_study_id

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