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CDKN2A (p16INK4A) somatic and germline mutations

✍ Scribed by Birgitte Smith-Sørensen; Eivind Hovig

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
836 KB
Volume
7
Category
Article
ISSN
1059-7794

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✦ Synopsis

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 CDKNZA gene (also known as ~1 6 ' ~~~ 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 CDKNZA 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 ~1 6 " ~~. mutations in tumorigenesis, a summary of these studies is also included in the present update. 8 1996 WiIcy-Li, I~C.

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