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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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 t
  

  Detailed Summary:

  Background:

  • 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.

  Objectives:

  • 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.
  • Sponsor: National Cancer Institute (NCI)
    

    Current Primary Outcome: Defining the clinical spectrum and natural history of familial melanoma and susceptibility states over multiple generations. [ Time Frame: Ongoing ]
    
    

    Original Primary Outcome:
    
    

    Current Secondary Outcome:
    
    

    Original Secondary Outcome:
    
    Information By: National Institutes of Health Clinical Center (CC)
    

    Dates:
    Date Received: June 25, 2002
    Date Started: June 20, 2002
    Date Completion:
    Last Updated: April 21, 2017
    Last Verified: February 6, 2017