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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1
Max Age: 100

Referral Letter Required


Population Exclusion(s)


Special Instructions


Risk Factors;
Natural History;
Melanoma Precursors;
Skin Cancer

Recruitment Keyword(s)

Skin Cancer


Dysplastic Nevus Syndrome

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Cancer Institute

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.

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-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).

Personal and family medical history must be verified through questionnaires, interviews, and review of pathology slides and medical records. For familial melanoma, three or more living affected cases with invasive melanoma among family members are required.


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

-Inability to provide informed consent.

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Liang X, Pfeiffer RM, Li WQ, Brossard M, Burke LS, Wheeler W, Calista D, Fargnoli MC, Ghiorzo P, Peris K, Bianchi-Scarra G, Chaudru V, Zelenika D, Maeder D, Burdette L, Yeager M, Chanock S, Landi MT, Demenais F, Tucker MA, Goldstein AM, Yang XR. Association of genetic variants in CDK6 and XRCC1 with the risk of dysplastic nevi in melanoma-prone families. J Invest Dermatol. 2014 Feb;134(2):481-487. doi: 10.1038/jid.2013.316. Epub 2013 Jul 26.

Goldstein AM, Tucker MA. Dysplastic nevi and melanoma. Cancer Epidemiol Biomarkers Prev. 2013 Apr;22(4):528-32. doi: 10.1158/1055-9965.EPI-12-1346.

Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, H(SqrRoot)(Delta)iom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations. Hum Genet. 2016 Nov;135(11):1241-1249. Epub 2016 Jul 23.

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Principal Investigator

Referral Contact

For more information:

Alisa M. Goldstein, Ph.D.
National Cancer Institute (NCI)
BG 9609 RM 6E438
(240) 276-7233

Stephanie Steinbart, R.N.
National Cancer Institute (NCI)
Westat Office
WRIT, Room 400
6110 Executive Boulevard
Rockville, Maryland 20852
(800) 518-8474

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office

Clinical Trials Number:


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