Study of Individuals and Families at High Risk for Melanoma

2014-08-27 03:55:48 | BioPortfolio


RATIONALE: Studying individuals and families at high risk for melanoma may help to identify other persons at risk and the genes involved in the development of melanoma.

PURPOSE: Study to identify genetic and environmental factors related to melanoma risk in individuals and families at high risk for melanoma.



- Evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing individuals and families to melanoma.

- Evaluate potential precursor states of disease in families at risk for melanoma.

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

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

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

- Evaluate gene-gene and gene-environmental interactions in melanoma (and other cancer) formation in individuals and families.

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

OUTLINE: One family member completes a family history questionnaire for verification of diagnosis and construction of a family pedigree. Information collected from all individuals may include skin examination and sun exposure history, overview and close-up photographs, medical history, and limited physical examination (entire skin exam for all family members and lymph node palpation for individuals with current or prior melanoma). Some individuals may also undergo an MRI and/or a skin biopsy.

Blood is collected for localizing genetic loci, identifying genes, and evaluating phenotype/genotype correlations. Each family is tested for mutations in CDKN2A and CDK4 and other potential melanoma susceptibility genes.

Each family member receives educational materials about sun protective behavior, skin self-examination, recognition of melanoma warning signs, recognition of dysplastic nevi, and changes worrisome for melanoma. Each person also receives individual risk counseling about melanoma based on personal cutaneous phenotype and position in the pedigree.

Individuals are followed every few years to document changes in their skin exam as sun exposure is decreased and to collect information from those who have undergone mole biopsies . Specific nevi are followed and photographed.

When the genetic testing results would impact clinical care recommendations, genetic testing and notification of results are offered only to participants who, after appropriate education and counseling, want to know their individual genetic status. Because of the exploratory nature of this study, results are not routinely returned to participants at this time.

A certificate of confidentiality protecting the identity of research participants in this project has been issued by the National Cancer Institute.

PROJECTED ACCRUAL: A total of 100 additional families will be accrued for this study within the next few years.

Study Design



Hereditary Multiple Melanoma


microarray analysis, mutation analysis, cytology specimen collection procedure, educational intervention, physiologic testing, evaluation of cancer risk factors, study of high risk factors


NCI - Division of Cancer Epidemiology and Genetics
United States




National Cancer Institute (NCI)

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:55:48-0400

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