Genetic Analysis of Familial Melanoma

Completed

Conditions studied: Melanoma

In brief

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 gene(s) 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 and/or melanoma is strongly influenced by genetic and environmental factors (e.g. sun exposure). Characterization of such genes could provide important insights into the inheritance, pathogenesis, and treatment of this increasingly important disease.

Key facts

Study ID

NCT00339404

Run by

National Human Genome Research Institute (NHGRI)

People needed

3000

Starts

1999-03-04

Expected to finish

2011-03-07

Last updated by the study team

2017-07-02

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

• Any family showing evidence of haplotype sharing in the 9p21-p22 region, where CDKN2A is located, was also excluded.

Where it is running

• National Human Genome Research Institute (NHGRI), 9000 Rockville Pike — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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