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Observational Study of Melanoma Risk Factors

This observational study is looking at how genes and environmental factors contribute to melanoma, a type of skin cancer, and related conditions. Researchers want to understand the full range of symptoms and how these conditions develop over time in individuals and families at high risk. They also aim to identify genes like CDKN2A and CDK4 that increase melanoma risk. You may be eligible if you are at least 4 weeks old and have a personal or family history of melanoma or certain types of skin tumors. The study aims to enroll 3000 participants. The main goal is to track all cancers that occur in high-risk individuals and families on an ongoing basis.

Study design
This is an observational study with a planned enrollment of 3000 participants. It is not testing a specific intervention or drug.
What's involved
You would fill out one or two questionnaires, provide written consent for researchers to review your medical records, and donate a blood or cheek cell sample for genetic studies.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, "All cancers that occur in individuals and families at high risk of melanoma," is measured on an ongoing basis.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT00040352

Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma

Recruiting
Not specifiedAges 4–99Observational
National Cancer Institute (NCI)
~3,000 participants
Updated 2026-08-25 on ClinicalTrials.gov

At a glance

Recruiting sites
2 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
All cancers that occur in individuals and families at high risk of melanoma
Measured over Ongoing

Conditions

Melanoma
Dysplastic Nevus Syndrome

Explore related trials

Dysplastic Nevus SyndromeMalignant Skin NeoplasmMelanoma

Where it's being run

2 sites across 1 states
Maryland2

Study leadership

  • Michael R Sargen, M.D. · PRINCIPAL_INVESTIGATOR · National Cancer Institute (NCI)

Who to contact

NCI Family Study Referrals
[email protected]
(800) 518-8474
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Affected: An individual who meets any of the following criteria will be eligible to participate in this study:
personal medical history of melanoma of an unusual type, pattern, or number diagnosed at any age; or,
known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi, Spitzoid tumors), or unusual demographic features (e.g., very young age of onset, multiple melanomas, previous history of heritable retinoblastoma, Hodgkin's disease, lymphoma, immunodeficiency syndrome, or organ transplant).
Ability of the individual or their parent or legal guardian, to understand, and their willingness to provide informed consent.
Unaffected: An individual who meets any of the following criteria will be eligible to participate in this study:
family medical history of melanoma of an unusual type, pattern, or number; or,
known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors (giant congenital nevi, dysplastic nevi. Spitzoid tumors), or unusual demographic features (e.g., very young age of onset, multiple melanomas, previous history of heritable retinoblastoma, Hodgkin's disease, lymphoma, immunodeficiency syndrome, or organ transplant).
Ability of the individual or their parent, or legal guardian to understand, and their willingness to provide informed consent.
Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records.

Exclusion

Referred individuals and families for whom reported diagnoses cannot be verified;
Inability to provide informed consent

What this trial measures

  • All cancers that occur in individuals and families at high risk of melanomaOngoing

    1\. Identification of major susceptibility genes for melanoma and dysplastic nevi. 2. Prospective risk of melanoma after initial exam and melanoma education. 3. Mortality of melanoma in families. 4. Identification of other risk factors for familial melanoma. 5. Identification of other cancers in melanoma-prone individuals and families.