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Discovering Genetic Markers for Inherited Cancers

This observational study aims to find new genetic markers (changes in your DNA) in adults and children who have cancer or are at risk for inherited forms of cancer. Researchers will collect Family History Information, and you may provide a saliva sample using an ORAGENE kit or a buccal swab (a swab from inside your cheek). For some participants, blood samples or a skin biopsy (a small piece of skin tissue) may also be collected. The goal is to discover new genes that make people more likely to get cancer, which could help reduce cancer risk or lead to earlier treatment. You may be eligible if you've had genetic testing, or if you have signs that suggest a genetic cancer. The study is currently recruiting participants.

Study design
This is an observational study aiming to enroll 1500 participants. It is not testing a specific treatment but rather observing and collecting information.
What's involved
You would provide family history information. You may also provide a saliva sample, blood samples, or a skin biopsy. The study aims to discover new genes over a period of up to 10 years.
Compensation
Not stated in the trial record.
Follow-up
The primary goal of discovering novel cancer susceptibility genes will be measured for up to 10 years.

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NCT03922893

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

Recruiting
Not specifiedAll AgesObservational
Memorial Sloan Kettering Cancer Center
~1,500 participants
Updated 2025-12-15 on ClinicalTrials.gov
What's tested:Family History InformationORAGENEBloodSkin Biopsy

At a glance

Recruiting sites
7 of 7 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Discovery of novel cancer susceptibility genes
Measured over Up to 10 years

Conditions

Cancer

Explore related trials

Malignant Neoplasm

Where it's being run

7 sites across 2 states
New York4
New Jersey3

Study leadership

  • Kenneth Offit, MD, MPH · PRINCIPAL_INVESTIGATOR · Memorial Sloan Kettering Cancer Center

Who to contact

Kenneth Offit, MD, MPH
[email protected]
646-888-4059
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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.

What this trial measures

  • Discovery of novel cancer susceptibility genesUp to 10 years