Identifying genetic markers for hereditary cancer risk in adults and children

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

Observational Memorial Sloan Kettering Cancer Center · NCT03922893

This study is trying to find genetic markers that can help identify adults and children at risk for hereditary cancers to improve early detection and prevention.

Quick facts

Study typeObservational
Enrollment1500 (estimated)
SexAll
SponsorMemorial Sloan Kettering Cancer Center Academic / other
Locations7 sites (Basking Ridge, New Jersey and 6 other locations)
Trial IDNCT03922893 on ClinicalTrials.gov

What this trial studies

This observational study aims to discover genetic mutations and variations in individuals who have cancer or are at risk for hereditary forms of cancer. It involves collecting family history information and biological samples, such as blood and skin biopsies, to evaluate genetic factors associated with cancer susceptibility. Participants include both adults and children, with a focus on those who have undergone genetic evaluations or exhibit clinical signs of genetic cancer syndromes. The goal is to enhance early detection and risk reduction for hereditary cancers.

Who should consider this trial

Good fit: Ideal candidates include individuals with a personal or family history suggestive of genetic cancer susceptibility, including those with early-onset cancers or multiple malignancies.

Not a fit: Patients without any family history of cancer or those who do not exhibit clinical signs of genetic cancer syndromes may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved strategies for early cancer detection and risk reduction in individuals with hereditary cancer predispositions.

How similar studies have performed: Other studies have successfully identified genetic markers associated with hereditary cancers, indicating that this approach has potential for meaningful contributions to cancer risk assessment.

Eligibility criteria

Show full inclusion / exclusion criteria
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.

Where this trial is running

Basking Ridge, New Jersey and 6 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions CancerGenetic evaluationGermline genetic variantGenetic cancerMemorial Sloan Kettering Cancer Center19-133
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.