Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
- 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
- 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.
- 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)
- 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
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.
- 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
Margaret A Tucker, M.D.
National Cancer Institute (NCI)
United States: Federal Government
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Bethesda, Maryland 20892|