Ignite Creation Date:
2024-05-05 @ 5:27 PM
Last Modification Date:
2024-10-26 @ 9:31 AM
Study NCT ID:
NCT00450593
Status:
UNKNOWN
Last Update Posted:
2013-08-12
First Post:
2007-03-20
Brief Title:
Identifying Gene Mutations in Patients With Melanoma and in Families With a History of Hereditary Melanoma
Sponsor:
Leeds Cancer Centre at St Jamess University Hospital
Organization:
National Cancer Institute NCI
Study Overview
Official Title:
Studies of Familial Melanoma
Status:
UNKNOWN
Status Verified Date:
2008-04
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
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 eg 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 eg 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 5000 participants will be accrued for this study
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 eg 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 eg 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 5000 participants will be accrued for this study
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| EU-20705 | Registry Identifier | PDQ Physician Data Query | None |
| CDR0000532941 | REGISTRY | None | None |