Identifying Gene Mutations in Patients With Melanoma and in Families With a... | Recruiting
Identifying Gene Mutations in Patie... | Recruiting
Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma

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Medical Conditions
  • Hereditary Multiple Melanoma
  • Melanoma (Skin)
Primary Contact Details
Unfortunately contact details are not available for this trial.
Recruitment Status
Recruiting
Trial source and source ID number
NCT00450593

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Summary
RATIONALE: Identifying gene mutations and other risk factors in patients with melanoma and in families with a history of hereditary melanoma may help doctors identify persons at risk for melanoma and other types of cancer. It may also help the study of cancer in the future.

PURPOSE: This clinical trial is studying gene mutations in patients with melanoma and in families with a history of hereditary melanoma.
Research Details
  • OBJECTIVES:

    - Determine the incidence and etiologic significance of variants of known melanoma susceptibility genes (MSGs) in families with multiple cases of melanoma.

    - Determine the proportion of multiple-case families that are explained by high-penetrance mutations in known MSGs.

    - Determine the proportion of multiple-case families that are explained by these mutations and whether it varies with latitude, as a surrogate for ultraviolet exposure, with number of affected relatives, with average age at onset of melanoma in relatives, with presence of multiple primary melanoma, or with other family-specific variables.

    - Determine the penetrance of MSG mutations in these families.

    - Determine if the penetrance varies with age, sex, or birth cohort.

    - Determine if the penetrance varies with the gene involved or nature of the mutation.

    - Assess the penetrance in mutations that also have a deleterious effect on the alternative splice product, p14ARF.

    - Determine whether carriers of MSGs have an increased susceptibility to other types of cancer.

    - Determine the risk of other types of cancers for mutation carriers.

    - Determine environmental exposures, in particular sun exposure, that modify risk of melanoma in MSG mutation carriers.

    - Determine the cutaneous phenotypes that correlate with melanoma risk in these families.

    - Correlate cutaneous phenotypes with the presence of MSG variants.

    - Determine the effect of other covariates, such as sun exposure or the presence of alleles of putative modifying genes (e.g., MC1R or CDKN2A), on phenotype.

    - Determine if modifier genes, such as those controlling pigmentation of the skin, and therefore sun susceptibility, modify risk in MSG mutation carriers.

    - Identify any histopathological correlates of MSG status in primary tumors arising in melanoma-susceptible individuals in these families.

    - Identify any histopathological correlates of primary melanomas in carriers of MSG mutations with other covariates.

    OUTLINE: This is a case-control, multicenter study.

    Participants complete 2 questionnaires and assist in the creation and expansion of a family pedigree. Blood samples are examined for melanoma susceptibility gene mutations, including CDK4 and CDKN2A.

    Participants are also examined for moles and photographed. Physical variables (e.g., skin, eye, and hair pigmentation) and sun damage (solar lentigines and freckling) are also noted.

    If available, tissue samples are examined for Clark level, Breslow thickness, and frequency of mitoses. Peri-lesional skin from tumors is examined by p53 staining.

    Participants are followed periodically to monitor cancer development.

    Peer reviewed and funded or endorsed by Cancer Research UK

    PROJECTED ACCRUAL: A total of 5,000 participants will be accrued for this study.
Phase
N/A
Study Design
N/A
Study Type
Observational
Intervention
Genetic : gene expression analysis, Genetic : microarray analysis, Genetic : molecular genetic technique, Genetic : mutation analysis, Other : laboratory biomarker analysis, Procedure : mutation carrier screening, Procedure : study of high risk factors

Study Arm Groups : , , , , , ,

Intervention Type
See Interventions above
Primary Outcome Measures
    Predictive significance of melanoma susceptibility gene (MSG) mutations in the CDKN2A gene; null; Susceptibility to other types of cancer as a feature of MSG mutations; null; Risk of other types of cancers in mutation carriers; null; Environmental exposures, in particular sun exposure, that modify risk of melanoma in MSG mutation carriers; null
Secondary Outcome Measures
    Sorry, this information is not available
Publication(s)
Sorry, this information is not available
Result Reports
Check availability of results on the Clinicaltrials.gov website
This information is designed to help you decide whether this trial is of interest. In some cases it is provided as a link to more detailed patient information or it may still be awaited from the organisation running the trial. Please look again shortly if the information you need is not here or, if named, contact the researcher named above.
Gender
Both
Age Range
N/A - N/A
Who Can Participate
Patients
Number of Participants
5000
Participant Inclusion Criteria
    DISEASE CHARACTERISTICS:

    - Meets one of the following criteria:

    - Prior multiple primary melanomas

    - Histological samples available

    - Family history of melanoma, with melanoma in two first-degree relatives (e.g., cases of melanoma in both a mother and son or in two brothers but not in two cousins)

    - Family history of melanoma, where three or more individuals (of any relationship) have had melanoma

    PATIENT CHARACTERISTICS:

    - Not specified

    PRIOR CONCURRENT THERAPY:

    - Not specified
Participant Exclusion Criteria
This is in the inclusion criteria above
This information is designed to help you decide whether this trial is of interest. In some cases it is provided as a link to more detailed patient information or it may still be awaited from the organisation running the trial. Please look again shortly if the information you need is not here or, if named, contact the researcher named above.
Trial Location(s)
St. James University Hospital, Department of Neurology
Leeds
LS9 7TF
Trial Contact(s)
Primary Trial Contact
Sorry, this information is not available
Other Trial Contacts
Sorry, this information is not available
Countries Recruiting
United Kingdom
This information is designed to help you decide whether this trial is of interest. In some cases it is provided as a link to more detailed patient information or it may still be awaited from the organisation running the trial. Please look again shortly if the information you need is not here or, if named, contact the researcher named above.
Scientific Title
Studies of Familial Melanoma
EudraCT Number
Not available for this trial
Funder(s)
    Sorry, this information is not available
Other Study ID Numbers
CRUK-LCC-99/3/45
Sponsor(s)
Leeds Cancer Centre at St. James's University Hospital
Key Dates

Recruitment Start Date

Jan 1989

Recruitment End Date

Dec 2020

Trial Start Date
Date Not Available
Trial End Date
Date Not Available
Date added to source

20 Mar 2007

Date updated in source

09 Aug 2013