Hereditary Multiple MelanomaNCT00450593
Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma
An observational study of Hereditary Multiple Melanoma and Melanoma (Skin), run by Leeds Cancer Centre at St. James's University Hospital at 1 site in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Hereditary Multiple Melanoma, Melanoma (Skin)
- What is being tested?
- gene expression analysis, microarray analysis and molecular genetic technique
- Type of treatment
- Surgery or procedure
- How many people
- 5,000 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- Jan 1989to Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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
Trial locations and contacts
1 site in 1 country.
United Kingdom1 site, 1 recruiting
- Recruiting
Leeds Cancer Centre at St. James's University Hospital
Leeds, England, LS9 7TF
Julia Newton Bishop, MD, 44-113-206-4668
About this study
Official title: Studies of Familial Melanoma
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.
Read the detailed description
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.
- Conditions
- Hereditary Multiple Melanoma, Melanoma (Skin)
- Being tested
- gene expression analysis, microarray analysis, molecular genetic technique, mutation analysis, laboratory biomarker analysis
- Keywords
- melanoma, hereditary multiple melanoma, recurrent melanoma, stage 0 melanoma, stage IV melanoma, stage IA melanoma, stage IB melanoma, stage IIA melanoma, stage IIB melanoma, stage IIC melanoma, stage IIIA melanoma, stage IIIB melanoma, stage IIIC melanoma
- Medical subject headings
- Melanoma, Cutaneous Malignant, Melanoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
gene expression analysisGenetic
microarray analysisGenetic
molecular genetic techniqueGenetic
mutation analysisGenetic
laboratory biomarker analysisOther
mutation carrier screeningProcedure or surgery
study of high risk factorsProcedure or surgery
What is being measured
The primary outcome is the main question the study is designed to answer.
Predictive significance of melanoma susceptibility gene (MSG) mutations in the CDKN2A gene
Susceptibility to other types of cancer as a feature of MSG mutations
Risk of other types of cancers in mutation carriers
Environmental exposures, in particular sun exposure, that modify risk of melanoma in MSG mutation carriers
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Mar 2007 (estimated)
- Study startJan 1989
- Primary completionDec 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Hereditary Multiple MelanomaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Enrolment
- 5,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Leeds Cancer Centre at St. James's University Hospital
- Sponsor type
- University, hospital or other
- Investigators
- Julia Newton Bishop, MD, Study chair, Leeds Cancer Centre at St. James's University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00450593
- Sponsor's protocol ID
- CRUK-LCC-99/3/45
- Other IDs
- CDR0000532941, EU-20705
- Status last verified
- Apr 2008
- First submitted
- 20 Mar 2007
- Last updated
- 12 Aug 2013
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 12 Aug 2013. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Studies of Familial Melanoma
- ClinicalTrials.gov ID
- NCT00450593
- Acronym / sponsor ID
- CRUK-LCC-99/3/45
- Conditions
- Hereditary Multiple Melanoma, Melanoma (Skin)
- Keywords
- melanoma, hereditary multiple melanoma, recurrent melanoma, stage 0 melanoma, stage IV melanoma, stage IA melanoma, stage IB melanoma, stage IIA melanoma
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 5,000 participants (estimated)
- Lead sponsor
- Leeds Cancer Centre at St. James's University HospitalUniversity, hospital or other
- Study start
- Jan 1989
- Primary completion
- Dec 2020 (estimated)
- First posted
- 22 Mar 2007 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| gene expression analysis | Genetic | – |
| microarray analysis | Genetic | – |
| molecular genetic technique | Genetic | – |
| mutation analysis | Genetic | – |
| laboratory biomarker analysis | Other | – |
| mutation carrier screening | Procedure or surgery | – |
| study of high risk factors | Procedure or surgery | – |
Primary outcome
Predictive significance of melanoma susceptibility gene (MSG) mutations in the CDKN2A gene
Susceptibility to other types of cancer as a feature of MSG mutations
Risk of other types of cancers in mutation carriers
Environmental exposures, in particular sun exposure, that modify risk of melanoma in MSG mutation carriers
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Aug 2013.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Julia Newton Bishop, MD study chair
Leeds Cancer Centre at St. James's University Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Multiple Melanoma and Melanoma (Skin), run by Leeds Cancer Centre at St. James's University Hospital at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 12 Aug 2013. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Predictive significance of melanoma susceptibility gene (MSG) mutations in the CDKN2A gene. The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 12 Aug 2013.