title: CDKN2A (p16INK4A) somatic and germline mutations.
abstract: The cell cycle is composed of a series of steps that can be negatively or positively regulated by various factors. A group of low-molecular-weight proteins have recently been identified that specifically inhibit the function of cyclin-dependent kinases in mammalian cells. Inactivation of the CDKN2A gene (also known as p16INK4A and MTS1) attracted considerable interest after it was mapped to 9p21, a locus for familial melanoma. In an effort to standardize the information regarding human CDKN2A mutations detected in cancers, a database with information of 146 point mutations has been created. Cancer type, origin of cells, specific mutation, amino acid change, literature citation, and other data are provided for each mutation entry. Studies of biochemical and biological functions of both wild-type and mutant proteins are central to our understanding of the role of p16INK4a mutations in tumorigenesis, a summary of these studies is also included in the present update.
authors.affiliation: Department of Genetics, Norwegian Radium Hospital, Oslo Norway.
authors.forename: B
authors.initials: B
authors.lastname: Smith-Sørensen
authors.forename: E
authors.initials: E
authors.lastname: Hovig
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D018095:Germ-Line Mutation; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics
chemical_list: D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16