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OpenTrials
Recruiting

NCT Number: NCT03922893

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

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.

Recruiting

Interested in participating?

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Key information

Conditions

Sex eligibility

All sexes

Study type

Observational

Primary location

Memorial Sloan Kettering Basking Ridge (Consent only), Basking Ridge, New Jersey, United States

Loading trial locations.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Family History Information

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

Genetic

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

Other names: Saliva

Blood

Genetic

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

Skin biopsy

Other

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

Primary outcomes

  1. Discovery of novel cancer susceptibility genes

    Time frame: Up to 10 years

Study contacts

Contact information is provided by the study sponsor or research team.

Kenneth Offit, MD, MPH

CONTACT

[email protected]

646-888-4059

Mark Robson, MD

CONTACT

[email protected]

646-888-5486

Sponsors and collaborators

Lead sponsor

Memorial Sloan Kettering Cancer Center

Other

Collaborators

  • New York Genome Center

Registry information

Official study title

Discovery and Characterization of Susceptibility Genes in Adults and Children With Suspected Hereditary Cancer Predisposition

Important dates

Study start
2019
Primary completion
2029
Study completion
2029
First posted
Apr 22, 2019
Registry last updated
Dec 15, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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