Familial Melanoma Study

Information for Patients

About the study

This study investigates how genetic and environmental factors contribute to the development of melanoma, a type of skin cancer, and related conditions. Since 2002 more than 3,000 people have participated in this study. 

Who is able to join

• Anyone age 2-years-old and older with a personal medical history of melanoma of an unusual type, pattern, or number diagnosed at any age
• Anyone with a family medical history of melanoma
• Read the full description of eligibility criteria on the Clinical Center website

What to expect

• Complete one or two questionnaires about your personal and family medical history
• Provide written consent for researchers to review your medical records 
• Blood tests and cheek cell sample to be used for genetic studies
• Possible skin biopsy (removal of a small piece of skin tissue) for genetic study and testing
• In some cases, you may be asked to travel to the Clinical Center in Bethesda, Maryland

Test results

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

Where to ask questions and begin enrollment

• To ask questions about the study or to enroll, contact the research team by phone at 800-518-8474 or by email at NCIFamilyStudyReferrals@nih.gov. 

Information for Researchers

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

Background and Purpose

Most genetic epidemiology investigations evaluate the contributions of host susceptibility and environmental exposure in the development of cancer. In family studies, the host susceptibility measure is frequently an alteration in a specific gene or genes. 

In collaboration with GenoMEL (Melanoma Genetics Consortium), an international consortium, DCEG investigators are searching for high-, moderate-, and low-risk melanoma susceptibility genes within families and in the population. DCEG investigators are also evaluating whether skin cancer screening and education about sun protection can reduce melanoma deaths in this high-risk population.

We continue to accrue and evaluate new families while continuing to evaluate families of individuals with heritable melanoma. 

Selected publications

Dalmasso B, Pastorino L, Nathan V, et al. Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia. Genet Med. 2021.

Sargen MR, Pfeiffer RM, Elder DE, et al. The Impact of Longitudinal Surveillance on Tumor Thickness for Melanoma-Prone Families with and without Pathogenic Germline Variants of CDKN2A and CDK4. Cancer Epidemiol Biomarkers Prev. 2021.

Yepes S, Tucker MA, Koka H, et al. Using whole-exome sequencing and protein interaction networks to prioritize candidate genes for cutaneous melanoma susceptibility. Sci Rep. 2020. 

Sargen MR, Calista D, Elder DE, et al. Histologic features of melanoma associated with germline mutations of CDKN2A, CDK4, and POT1 in melanoma-prone families from the United States, Italy, and Spain. J Am Acad Dermatol. 2020.

Tucker MA, Elder DE, Curry M, et al. Risks of Melanoma and Other Cancers in Melanoma-Prone Families over 4 Decades. J Invest Dermatol. 2018.