Molecular Epidemiology of Cutaneous Malignant Melanoma

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00341991
First received: June 19, 2006
Last updated: June 4, 2014
Last verified: May 2014
  Purpose

This case-control study was planned to investigate the link of solar radiation with gene damage, host factors, and DNA repair proficiency in cutaneous malignant melanoma (CMM) risk. The hypothesis was that impaired DNA repair proficiency is associated with an increased risk of CMM due to unrepaired DNA damage, particularly in subjects with dysplastic nevi, poor tanning ability or genetic susceptibility.

The study was reviewed as an RO1 Grant from the National Cancer Institute in 1995. Subject enrollment, which included clinical evaluation, epidemiologic questionnaires, and skin and blood sample collection, was completed in 1999 on approximately 180 melanoma cases and 180 controls identified in Italy. The study protocol and consent form both included the measurement of genetic and biochemical factors and DNA repair capacity. DNA repair proficiency was measured in lymphocytes by the host cell reactivation assay, and sun exposure was evaluated by means of a detailed questionaire. Photographs of the back of the subjects were taken to allow nevi count. Minimal erythemal dosage was measured in all subjects to estimate skin sun sensitivity 24 hours after skin's UV-irradiation. Skin color was ascertained on the inner side of the forearm by means of a Minolta chromometer.

The aim of this protocol is to continue analysis of the biological samples already collected, as originally outlined in the study protocol. In particular, we plan to measure polymorphisms in genes that may lead to susceptibility to melanoma. Initially we will concentrate on variation in genes involved in repairing damaged DNA, but plan to look at a broad group of candidate susceptibility genes.


Condition
Melanoma

Study Type: Observational
Study Design: Time Perspective: Retrospective
Official Title: Molecular Epidemiology of Cutaneous Malignant Melanoma

Resource links provided by NLM:


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

Primary Outcome Measures:
  • To identify genes, host and environmental factors that lead tosusceptibility to melanoma. [ Time Frame: Ongoing ]

Estimated Enrollment: 8500
Study Start Date: October 2001
Detailed Description:

This case-control study was planned to investigate the link of solar radiation with gene damage, host factors, including also genetic variants, and DNA repair proficiency in cutaneous malignant melanoma (CMM) risk. The hypothesis was that impaired DNA repair proficiency is associated with an increased risk of CMM due to unrepaired DNA damage, particularly in subjects with dysplastic nevi, poor tanning ability or genetic susceptibility.

The study was reviewed and funded as an R01 Grant from the National Cancer Institute in 1995. Subject enrollment, which included clinical evaluation, epidemiologic questionnaires, and skin and blood sample collection, was completed in 1999 on approximately 180 melanoma cases and 180 controls identified in Italy. The study protocol and consent form both included the measurement of genetic and biochemical factors, and DNA repair capacity. DNA repair proficiency was measured in lymphocytes by the host cell reactivation assay, and sun exposure was evaluated by means of a detailed questionnaire. Photographs of the back of the subjects were taken to allow nevi count. Minimal erythemal dosage was measured in all subjects to estimate skin sun sensitivity 24 hours after skin's UV-irradiation. Skin color was ascertained on the inner side of the forearm by means of a Minolta chromometer.

The aim of this protocol is to continue analysis of the biological samples already collected, as originally outlined in the study protocol. In particular, we measured polymorphisms in genes that may lead to susceptibility to melanoma by altering the repair of damaged DNA. In addition, we investigated the role of pigmentation genes, including MC1R, ASIP and AGRP in melanogenesis, and their interaction with sun exposure and DNA repair. We have found that variants in the MCIR gene are associated with risk of developing melanoma, and in particular, the type of melanomas that arise on skin with no marked signs of chronic solar damage and that bears mutations in the BRAF oncogene. We are currently analyzing other genes in the pigmentation pathway. We have also completed the laboratory analyses of the protein pattern in plasma of all subjects and we are conducting the related statistical analyses, to investigate whether they differ by case-status, presence of dysplastic nevi, gene polymorphisms or DNA repair proficiency. Moreover, we are studying the effect of variants in KIR genes and protection against melanoma risk.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria
  • Analysis on samples already collected.
  Contacts and Locations
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Please refer to this study by its ClinicalTrials.gov identifier: NCT00341991

Locations
United States, Maryland
National Cancer Institute (NCI), 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Investigators
Principal Investigator: Maria T Landi, M.D. National Cancer Institute (NCI)
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00341991     History of Changes
Other Study ID Numbers: 999902035, 02-C-N035
Study First Received: June 19, 2006
Last Updated: June 4, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
DNA Repair
Genes
Pigmentation
Skin Cancer
Sun Exposure

Additional relevant MeSH terms:
Melanoma
Neoplasms
Neoplasms by Histologic Type
Neoplasms, Germ Cell and Embryonal
Neoplasms, Nerve Tissue
Neuroectodermal Tumors
Neuroendocrine Tumors
Nevi and Melanomas

ClinicalTrials.gov processed this record on October 23, 2014