Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma - Full Text View

Sponsor:	National Cancer Institute (NCI)
Information provided by:	National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:	NCT00040352

Purpose

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.

Condition
Melanoma

Study Type:	Observational
Official Title:	Clinical, Laboratory, and Epidemiologic Characterization of Individuals and Families at High Risk of Melanoma

Resource links provided by NLM:

Genetics Home Reference related topics: Help Me Understand Genetics

MedlinePlus related topics: Cancer Melanoma

U.S. FDA Resources

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment:	3000
Study Start Date:	June 2002

Detailed Description:

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.
To develop educational materials for medical professionals and high-risk family members.

Eligibility:

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.

Design:

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

INCLUSION 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).

EXCLUSION CRITERIA:

Referred individuals and families for whom reported diagnoses cannot be verified;
Inability to provide informed consent.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00040352

Contacts

Contact: NCI Referral Office

1-888-NCI-1937

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Sub-Investigator: National Cancer Institute Referral Office For more information at the NIH Clinical Center contact

Sponsors and Collaborators

National Cancer Institute (NCI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

Kefford R, Bishop JN, Tucker M, Bressac-de Paillerets B, Bianchi-Scarra G, Bergman W, Goldstein A, Puig S, Mackie R, Elder D, Hansson J, Hayward N, Hogg D, Olsson H; Melanoma Genetics Consortium. Genetic testing for melanoma. Lancet Oncol. 2002 Nov;3(11):653-4. No abstract available.

Goldstein AM, Struewing JP, Chidambaram A, Fraser MC, Tucker MA. Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations. J Natl Cancer Inst. 2000 Jun 21;92(12):1006-10.

Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA; Melanoma Genetics Consortium. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst. 2002 Jun 19;94(12):894-903.

ClinicalTrials.gov Identifier:	NCT00040352 History of Changes
Obsolete Identifiers:	NCT00045240
Other Study ID Numbers:	020211, 02-C-0211
Study First Received:	June 25, 2002
Last Updated:	December 29, 2011
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):

Genetics
Risk Factors
Natural History

Melanoma Precursors
Skin Cancer
Melanoma

Additional relevant MeSH terms:

Melanoma
Neuroendocrine Tumors
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal

Neoplasms by Histologic Type
Neoplasms
Neoplasms, Nerve Tissue
Nevi and Melanomas

ClinicalTrials.gov processed this record on February 09, 2012