Article
A rare germline CDKN2A variant (47T>G; p16-L16R) predisposes carriers to pancreatic cancer by reducing cell cycle inhibition.
The Journal of biological chemistry - 1 Jan 2000
Horn Isaac P, Marks David L, Koenig Amanda N, Hogenson Tara L, Almada Luciana L, Goldstein Lauren E, Romecin Duran Paola A, Vera Renzo, Vrabel Anne M, Cui Gaofeng, Rabe Kari G, Bamlet William R, Mer Georges, Sicotte Hugues, Zhang Cheng, Li Hu, Petersen Gloria M, Fernandez-Zapico Martin E
Abstract excerpt
Germline mutations in CDKN2A, encoding the tumor suppressor p16, are responsible for a large proportion of familial melanoma cases and also increase risk of pancreatic cancer. We identified four families through pancreatic cancer probands that were affected by both cancers. These families bore a germline missense variant of CDKN2A (47T>G), encoding a p16-L16R mutant protein associated with high cancer occurrence....
Topics
- Adult
- Aged
- Cell Cycle
- Cyclin-Dependent Kinase Inhibitor p16
- Female
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Heterozygote
- Humans