CDKN2A (P16(INK4A)) SOMATIC AND GERMLINE MUTATIONS

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 inhibi t the function of cyclin dependent kinases in mammalian cells. Inactiv ation of the CDKN2A gene (also known as p16(INK4A) and MTS1) attracted considerable interest after it was mapped to 9p21, a locus for famili al melanoma. In an effort to standardize the information regarding hum an CDKN2A mutations detected in cancers, a database with information o f 146 point mutations has been created. Cancer type, origin of cells, specific mutation, amino acid change, literature citation, and other d ata are provided for each mutation entry. Studies of biochemical and b iological functions of both wild-type and mutant proteins are central to our understanding of the role of p16(INK4a) mutations in tumorigene sis, a summary of these studies is also included in the present update . (C) 1996 Wiley Liss, Inc.