Investigating genetic and environmental factors in melanoma risk

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

Observational National Institutes of Health Clinical Center (CC) · NCT00040352

This study is trying to find out how genes and the environment affect the risk of developing melanoma in people and families who have a history of this skin cancer.

Quick facts

Study typeObservational
Enrollment3000 (estimated)
Ages4 Weeks to 99 Years
SexAll
SponsorNational Institutes of Health Clinical Center (CC) NIH
Locations2 sites (Bethesda, Maryland and 1 other locations)
Trial IDNCT00040352 on ClinicalTrials.gov

What this trial studies

This observational study aims to explore how genetic and environmental factors contribute to the development of melanoma and related conditions. Participants, including individuals and families with a personal or family history of melanoma or atypical tumors, will complete questionnaires about their medical history and provide biological samples for genetic analysis. The study seeks to identify risk factors, evaluate the natural history of melanoma, and understand gene-environment interactions that may influence cancer susceptibility.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 4 weeks and older with a personal or family history of melanoma or related conditions.

Not a fit: Patients without a personal or family history of melanoma or related risk factors may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved screening and prevention strategies for individuals at high risk of melanoma.

How similar studies have performed: Other studies have successfully identified genetic risk factors for melanoma, suggesting that this approach may yield valuable insights.

Eligibility criteria

Show full inclusion / exclusion criteria
* INCLUSION CRITERIA:
* On referral, persons \>=4 weeks old of any sex, race or ethnicity will be considered for inclusion in the study because of the criteria noted below.
* 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 CRITERIA:

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

Where this trial is running

Bethesda, Maryland and 1 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 MelanomaDysplastic Nevus SyndromeSkin CancerRisk FactorsMelanoma PrecursorsGenetics
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.