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Recruiting NCT03922893

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

— Observational Cancer

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Family History Information, ORAGENE, Blood, Skin Biopsy.
Who it may be relevant to
Registry conditions: Cancer. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
United States
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

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

Overview

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.

Interventions

  • Other 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.
  • Genetic ORAGENE
    Approximately 2-4mL of saliva may be collected in specialized Oragene DNA Self-Collection Kit tubes or buccal swab-based collection devices.
  • Genetic Blood
    For select participants, 1-2 tubes of blood will be drawn for DNA and RNA analysis
  • Other Skin Biopsy
    In certain circumstances, for Memorial Sloan Kettering participants and their family members, it may be necessary to obtain a skin biopsy.

Primary outcome measures

  • Discovery of novel cancer susceptibility genes [Time frame: Up to 10 years]

Eligibility 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.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: Yes

Study design

Observational model
Cohort

Study locations

United States · 7 centers
  • Memorial Sloan Kettering Basking Ridge (Consent only) — Basking Ridge
  • Memorial Sloan Kettering Monmouth (Consent only) — Middletown
  • Memorial Sloan Kettering Bergen (Consent only ) — Montvale
  • Memorial Sloan Kettering Cancer Center @ Commack (Consent Only) — Commack
  • Memorial Sloan Kettering Westchester (Consent only) — Harrison
  • Memorial Sloan Kettering Cancer Center — New York
  • Memorial Sloan Kettering Nassau (Consent only) — Uniondale

Identifiers

NCT: NCT03922893 · 19-133

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗