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


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Open (Enrolling)
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Melanoma

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Trial Information

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


Background:

- Persons may be prone to develop melanoma for a variety of reasons including: family
history; environmental exposures; other malignant or premalignant conditions which may
or may not be heritable; immune deficiency; or, preneoplastic conditions such as
dysplastic nevi.

- Investigations of individuals and families at high risk of melanoma have led to
etiologic clues that are important in the general population.

- Identification of melanoma susceptibility genes, the estimation of their effects, and
gene-covariate and gene-gene interactions could improve prevention, screening and
treatment of this cancer.

Objectives:

- To evaluate and define the clinical spectrum and natural history of disease in
syndromes predisposing to melanoma.

- To evaluate potential precursor states of disease in families at risk.

- To quantify risks of melanoma, pancreatic cancer, and other cancers in family members.

- To map, clone, and determine function of tumor susceptibility genes in melanoma-prone
families, including modifier genes such as pigmentation or dysplastic nevi genes.

- To identify genetic determinants and gene-environmental interactions conferring
melanoma (and other cancer) risk in individuals and families.

- To evaluate gene-gene and gene-environment interactions in melanoma (and other cancer)
formation.

- To educate and counsel study participants about their melanoma risk and methods for
primary and secondary prevention of melanoma.

- To develop educational materials for medical professionals and high-risk family
members.

Eligibility:

Persons of any age will be considered if,

- There is a family or personal medical history of melanoma of an unusual type, pattern,
or number; or,

- There are known or suspected factor(s) predisposing to melanoma, either genetic or
congenital factors, or unusual demographic features.

- For familial melanoma, three or more living affected cases with invasive melanoma among
family members are required.

Design:

- This is a prospective study. Families are studied long-term using a cohort approach.

- Two melanoma susceptibility genes have been identified, but it is likely others are yet
to be found. We are also exploring potential modifier genes in participating families.

- The affection status of each participant, information on their skin examination, sun
exposure history, medical photographs (both overview and close-up) and blood draw for
localizing genetic loci, identifying genes and evaluating phenotype/genotype
correlations, constitute the workup for newly recruited families.

- Study volunteers are reevaluated every few years to document changes in their skin exam
over time. This is essential for establishing the natural history of dysplastic nevi
and melanoma.

Inclusion Criteria


- INCLUSION CRITERIA:

- On referral, persons of any age will be considered for inclusion in the study because
of either:

- A family or personal 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 (bathing trunk nevi, dysplastic nevi), or unusual demographic features (e.g.
very young age of onset, multiple melanomas, previous history of heritable
retinoblastoma, Hodgkin's disease, lymphoma, or organ transplant).

EXCLUSION CRITERIA:

- Referred individuals and families for whom reported diagnoses cannot be verified;

- Inability to provide informed consent.

Type of Study:

Observational

Study Design:

N/A

Principal Investigator

Margaret A Tucker, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Cancer Institute (NCI)

Authority:

United States: Federal Government

Study ID:

020211

NCT ID:

NCT00040352

Start Date:

June 2002

Completion Date:

Related Keywords:

  • Melanoma
  • Genetics
  • Risk Factors
  • Natural History
  • Melanoma Precursors
  • Skin Cancer
  • Melanoma
  • Melanoma

Name

Location

National Institutes of Health Clinical Center, 9000 Rockville PikeBethesda, Maryland  20892