Viewing Study NCT00339404



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Study NCT ID: NCT00339404
Status: COMPLETED
Last Update Posted: 2017-07-02
First Post: 2006-06-19

Brief Title: Genetic Analysis of Familial Melanoma
Sponsor: National Human Genome Research Institute NHGRI
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: Genetic Analysis of Familial Melanoma
Status: COMPLETED
Status Verified Date: 2011-03-07
Last Known Status: None
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: In collaboration with members of The International Melanoma Consortium we propose to study melanoma in families lacking mutations in the cyclin-dependent kinase inhibitor 2 CDKN2 or p16 gene or the cyclin-dependant kinase 4 CDK4 CDKN2 and CDK4 are both genes that encode presumed tumor suppressor genes mutant forms of which are known to cause increased susceptibility to melanoma The purpose of the present study then is to confirm the existence of and to identify additional genes involved in heritable melanoma cutaneous and ocular and their precursor lesions atypical nevi by linkage analysis and gene mapping strategies It is clear that the risk to develop atypical nevi andor melanoma is strongly influenced by genetic and environmental factors eg sun exposure Characterization of such genes could provide important insights into the inheritance pathogenesis and treatment of this increasingly important disease
Detailed Description: In collaboration with members of The International Melanoma Genetics Consortium we propose to study melanoma in families lacking mutations in the cyclin-dependent kinase inhibitor 2 CDKN2A or the cyclin-dependant kinase 4 CDK4 genes CDKN2 and CDK4 are both genes that encode presumed tumor suppressor genes mutant forms of which are known to cause increased susceptibility to melanoma The purpose of the present study then is to confirm the existence of and to identify additional genes involved in heritable melanoma cutaneous and ocular and their precursor lesions atypical nevi by linkage analysis and gene mapping strategies It is clear that the risk to develop atypical nevi andor melanoma is strongly influenced by genetic and environmental factors eg sun exposure Characterization of such genes could provide important insights into the inheritance pathogenesis and treatment of this increasingly important disease

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: None
Is a FDA Regulated Device?: None
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None
Secondary IDs
Secondary ID Type Domain Link
OH99-HG-N012 None None None