Protocol Number: 02-C-0211

Title:

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

Number:

02-C-0211

Summary:

This study will investigate how genetic and environmental factors contribute to the development of melanoma, a type of skin cancer, and related conditions.

Individuals of any age with a personal or family history of melanoma may be eligible for this study. Participants will:

- Fill out one or two questionnaires about their personal and family medical history.

- Provide written consent for researchers to review their medical records and pathology materials related to their care and those of deceased relatives with melanomas, tumors, cancer, or other related illnesses for whom they are the next-of-kin or legally authorized representative.

- Donate a blood or cheek cell sample to be used for genetic studies. (The blood sample is collected through a needle in an arm vein. The cheek cell sample is obtained either by gently brushing the inside of the mouth with a soft brush or by swishing a tablespoon of mouthwash and then spitting it into a container.)

- Undergo a skin biopsy (removal of a small piece of skin tissue) for genetic study. For this procedure, the area of skin to be removed is numbed with a local anesthetic and a 1/4-inch piece of skin is excised with a cookie cutter-like instrument. The wound is then covered with a band-aid.

Participants may be asked to travel to the NIH Clinical Center for evaluation, including a medical history, physical examination, and some of the following procedures:

- Full body skin examination to evaluate the type and number of moles and document any evidence of sun damage to the skin. The examination involves all the skin from the scalp to the bottoms of the feet. After the examination, a medical photographer will photograph the skin, with close-ups of skin lesions marked by the examiner. If there are parts of the skin the participant does not want examined or photographed, he or she can tell the examiner.

- Blood draw of about 120 milliliters (4 ounces) or less

- Skin biopsy

- Cheek cell sample

- X-rays, ultrasound and magnetic resonance imaging (MRI) studies to detect tumors or changes in tumors or other types of changes in specific tissues. MRI is a diagnostic test that uses strong magnetic fields and radiowaves to examine body tissues. The subject lies on a table that is moved into a large tunnel-like machine (the scanner) for about 45 minutes to 1 hour.

When the tests are finished, a doctor will discuss the results with the participant and the need, if any, for clinical follow-up.

Sponsoring Institute:

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility 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.

Special Instructions:

Keywords:

Genetics

Risk Factors

Natural History

Melanoma Precursors

Skin Cancer

Recruitment Keyword(s):

Melanoma

Skin Cancer

Condition(s):

Melanoma

Investigational Drug(s):

None

Investigational Device(s):

None

Intervention(s):

None

Supporting Site:

National Cancer Institute

Contact(s):

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
Phone: 1-888-NCI-1937
Fax: Not Listed
Electronic Address: ncicssc@mail.nih.gov

Citation(s):

Kefford R, Genetic testing for melanoma. Lancet Oncol. 2002 Nov;3(11):653-4. No abstract available.

Goldstein AM, Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations. J Natl Cancer Inst. 2000 Jun 21;92(12):1006-10.

Bishop DT, Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department of Clinical Research Informatics, CC.

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National Institutes of Health Clinical Center Bethesda, Maryland 20892. Last update: 01/13/2009