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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00040352
Recruitment Status : Recruiting
First Posted : June 26, 2002
Last Update Posted : September 10, 2019
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )

Tracking Information
First Submitted Date June 25, 2002
First Posted Date June 26, 2002
Last Update Posted Date September 10, 2019
Actual Study Start Date July 1, 2002
Primary Completion Date Not Provided
Current Primary Outcome Measures
 (submitted: December 19, 2018)
Defining the clinical spectrum and natural history of familial melanoma and susceptibility states over multiple generations. [ Time Frame: Ongoing ]
1. Identification of major susceptibility genes for melanoma and dysplastic nevi.2. Prospective risk of melanoma after initial exam and melanoma education.3. Mortality of melanoma in families.4. Identification of other risk factors for familial melanoma.5. Identification of other cancers in melanoma-prone individuals and families.
Original Primary Outcome Measures Not Provided
Change History Complete list of historical versions of study NCT00040352 on Archive Site
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
Official Title Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma
Brief 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.

Detailed Description


  • Persons may be prone to develop melanoma for a variety of reasons including: family history; environmental exposures; other malignant or premalignant conditions which may or may not be heritable; immune deficiency; or, preneoplastic conditions such as dysplastic nevi.
  • Investigations of individuals and families at high risk of melanoma have led to etiologic clues that are important in the general population.
  • Identification of melanoma susceptibility genes, the estimation of their effects, and gene-covariate and gene-gene interactions could improve prevention, screening and treatment of this cancer.


  • To evaluate and define the clinical spectrum and natural history of disease in syndromes predisposing to melanoma.
  • To evaluate potential precursor states of disease in families at risk.
  • To quantify risks of melanoma, pancreatic cancer, and other cancers in family members.
  • To map, clone, and determine function of tumor susceptibility genes in melanoma-prone families, including modifier genes such as pigmentation or dysplastic nevi genes.
  • To identify genetic determinants and gene-environmental interactions conferring melanoma (and other cancer) risk in individuals and families.
  • To evaluate gene-gene and gene-environment interactions in melanoma (and other cancer) formation.
  • To educate and counsel study participants about their melanoma risk and methods for primary and secondary prevention of melanoma.
  • To develop educational materials for medical professionals and high-risk family members.


Persons of any age will be considered if,

  • There is a family or personal medical history of melanoma of an unusual type, pattern, or number; or,
  • There are known or suspected factor(s) predisposing to melanoma, either genetic or congenital factors, or unusual demographic features.
  • For familial melanoma, three or more living affected cases with invasive melanoma among family members are required.


  • This is a prospective study. Families are studied long-term using a cohort approach.
  • Two melanoma susceptibility genes have been identified, but it is likely others are yet to be found. We are also exploring potential modifier genes in participating families.
  • The affection status of each participant, information on their skin examination, sun exposure history, medical photographs (both overview and close-up) and blood draw for localizing genetic loci, identifying genes and evaluating phenotype/genotype correlations, constitute the workup for newly recruited families.
  • Study volunteers are reevaluated every few years to document changes in their skin exam over time. This is essential for establishing the natural history of dysplastic nevi and melanoma.
Study Type Observational
Study Design Observational Model: Family-Based
Time Perspective: Other
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Non-Probability Sample
Study Population All members of families with three or more living melanoma cases in the U.S. are eligible for inclusion in the study if the families are willing to participate.@@@@@@
  • Melanoma
  • Dysplastic Nevus Syndrome
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: June 23, 2005)
Original Enrollment Same as current
Study Completion Date Not Provided
Primary Completion Date Not Provided
Eligibility 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).


  • Referred individuals and families for whom reported diagnoses cannot be verified;
  • Inability to provide informed consent.
Sexes Eligible for Study: All
Ages 1 Year to 100 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contact: Alisa M Goldstein, Ph.D. (240) 276-7233
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT00040352
Other Study ID Numbers 020211
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
Study Sponsor National Cancer Institute (NCI)
Collaborators Not Provided
Principal Investigator: Alisa M Goldstein, Ph.D. National Cancer Institute (NCI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date August 29, 2019