Genetic Risk Factors and Acquired Oncogenic Mutations of Melanoma (M3)

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: NCT00849407
Recruitment Status : Recruiting
First Posted : February 23, 2009
Last Update Posted : August 31, 2017
Information provided by (Responsible Party):
Ichiro Okamoto, Medical University of Vienna

Brief Summary:
Though it is generally accepted that exposure to sunlight is a major causative factor for skin cancer, the risk for developing melanoma is not directly linked to sun exposure such as in non-melanoma skin cancer. Therefore, a dual pathway has been proposed, distinguishing melanoma that develops on skin that is chronically exposed to sunlight from those that occur on skin that is normally protected. The risk for each type of melanoma is believed to be determined in part by genetic factors. To define these markers reproducibly, the investigators plan to establish a large cohort with comprehensive information regarding sun sensitivity (skin type), history of experienced sun exposure, skin pigmentation phenotypes, total number of nevi, and other types of skin tumors in a central European population. The investigators will obtain blood from all participants for DNA as well as serum analyses. Based on the finding that genetic variants of the melanocortin-1 receptor (MC1R) gene, associated with red hair and fair skin, have been shown to be associated with increased risk for melanoma, particularly those harboring BRAF mutations, the investigators will now focus on the study of recently discovered genetic variants associated with pigmentation. Furthermore, the investigators will study the relation of these variants with oncogenic mutations of melanoma in BRAF, RAS and c-Kit. The study of other genetic variants will follow, once a sufficiently large cohort has been established to reveal an independent genetic risk factor in a multivariate analysis including potential covariates as mentioned above. The identification of genetic risk factors for melanoma will not only help identify individuals with increased risk but also improve our understanding of the molecular background of the development of melanoma.

Condition or disease

Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: Genetic Risk Factors and Acquired Oncogenic Mutations of Melanoma
Study Start Date : October 2008
Estimated Primary Completion Date : December 2020
Estimated Study Completion Date : December 2020

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Melanoma
U.S. FDA Resources

melanoma patients

Primary Outcome Measures :
  1. melanoma [ Time Frame: 2 years ]

Secondary Outcome Measures :
  1. survival [ Time Frame: 10 years ]

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Our goal is to recruit at least one thousand melanoma patients of any stage and one thousand controls in order to acquire a well sized cohort for identifying independent molecular markers in multivariate analyses (for statistical considerations see "Statistical analysis" on page 8). Patients who visit the out-door clinic of the Department of Dermatology at the Medical University of Vienna with any other diseases than melanoma, their spouses and spouses of melanoma patients will be asked to contribute as controls.

Inclusion Criteria:

  • patients with or without melanoma

Exclusion Criteria:

  • HIV and Hepatitis C positive individuals.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00849407

Contact: Ichiro Okamoto, MD +43-1-40400-0 ext 2273

Medical University of Vienna Recruiting
Vienna, Austria, A-1090
Contact: Ichiro Okamoto, MD    +43-1-40400-0 ext 2273 or 7700   
Sponsors and Collaborators
Medical University of Vienna

Responsible Party: Ichiro Okamoto, associate professor, Medical University of Vienna Identifier: NCT00849407     History of Changes
Other Study ID Numbers: M3-I
First Posted: February 23, 2009    Key Record Dates
Last Update Posted: August 31, 2017
Last Verified: August 2017

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