Article
CDKN2A germline mutations in individuals with cutaneous malignant melanoma.
The Journal of investigative dermatology - 1 May 2007
Orlow Irene, Begg Colin B, Cotignola Javier, Roy Pampa, Hummer Amanda J, Clas Brian A, Mujumdar Urvi, Canchola Rebecca, Armstrong Bruce K, Kricker Anne, Marrett Loraine D, Millikan Robert C, Gruber Stephen B, Anton-Culver Hoda, Zanetti Roberto, Gallagher Richard P, Dwyer Terence, Rebbeck Timothy R, Kanetsky Peter A, Wilcox Homer, Busam Klaus, From Lynn, Berwick Marianne
Abstract excerpt
Cyclin-dependent kinase inhibitor type 2A (CDKN2A) has been identified as a major melanoma susceptibility gene based on the presence of germline mutations in high-risk melanoma families. In this study, we sought to identify and characterize the spectrum of CDKN2A mutations affecting p16 inhibitor of cyclin-dependent kinase type 4 (INK4a) in individuals with melanoma using a population-based study design. DNA...
Topics
- Cyclin-Dependent Kinase Inhibitor p16
- DNA, Neoplasm
- Exons
- Genetic Predisposition to Disease
- Genetic Testing
- Germ-Line Mutation
- Humans
- Melanoma