NCT00040352

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

Recruiting now Last updated 9 March 2026

What this trial tests

trial in Melanoma in 3,000 participants. Currently enrolling.

Timeline

1 July 2002

Quick facts

Lead sponsor	National Cancer Institute (NCI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	3,000
Start date	1 July 2002
Sites	2 locations across United States

Conditions studied

• Melanoma — all drugs for Melanoma →
• Dysplastic Nevus Syndrome — all drugs for Dysplastic Nevus Syndrome →

Sponsor

National Cancer Institute (NCI)

Who can join

Adults 4 Weeks to 99, any sex, with Melanoma or Dysplastic Nevus Syndrome. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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

Individuals \>=4 weeks with a personal or family history of melanoma or atypical spitzoid/Spitz tumor 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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Risks of Melanoma and Other Cancers in Melanoma-Prone Families over 4 Decades.
   Tucker MA, Elder DE, Curry M, Fraser MC, et al · · 2018 · cited 15× · PMID 29408205 · DOI 10.1016/j.jid.2018.01.021
2. Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain.
   Sargen MR, Calista D, Elder DE, Massi D, et al · · 2020 · cited 13× · PMID 32283231 · DOI 10.1016/j.jaad.2020.03.100
3. Pediatric melanoma in melanoma-prone families.
   Goldstein AM, Stidd KC, Yang XR, Fraser MC, et al · · 2018 · cited 12× · PMID 30207590 · DOI 10.1002/cncr.31641
4. Using whole-exome sequencing and protein interaction networks to prioritize candidate genes for germline cutaneous melanoma susceptibility.
   Yepes S, Tucker MA, Koka H, Xiao Y, et al · · 2020 · cited 10× · PMID 33057211 · DOI 10.1038/s41598-020-74293-5
5. Association of germline variants in telomere maintenance genes (<i>POT1, TERF2IP, ACD,</i> and <i>TERT</i>) with spitzoid morphology in familial melanoma: A multi-center case series.
   Goldstein AM, Qin R, Chu EY, Elder DE, et al · · 2023 · cited 9× · PMID 36876055 · DOI 10.1016/j.jdin.2023.01.013
6. Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.
   Sargen MR, Helgadottir H, Yang XR, Harland M, et al · · 2022 · cited 8× · PMID 36269225 · DOI 10.1093/jncics/pkac074
7. The Impact of Longitudinal Surveillance on Tumor Thickness for Melanoma-Prone Families with and without Pathogenic Germline Variants of <i>CDKN2A</i> and <i>CDK4</i>.
   Sargen MR, Pfeiffer RM, Elder DE, Yang XR, et al · · 2021 · cited 4× · PMID 33811164 · DOI 10.1158/1055-9965.epi-20-1521
8. Integrated Analysis of Coexpression and Exome Sequencing to Prioritize Susceptibility Genes for Familial Cutaneous Melanoma.
   Yepes S, Tucker MA, Koka H, Xiao Y, et al · · 2022 · cited 3× · PMID 35181301 · DOI 10.1016/j.jid.2022.01.029