Methods for the diagnosis of a genetic predisposition to cancer

Details Methods for the diagnosis of a genetic predisposition to cancer Methods for the diagnosis of a genetic predisposition to cancer

1995-11-29

1998-02-03

Houtteman, Scott W.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

536 235, 536 2431, 536 2433, C12Q 168

Patent

active

057143293

ABSTRACT:
Protein complexes consisting of a cyclin dependent kinase CDK4 and cyclin D control passage through the G1 checkpoint of the cell cycle by phosphorylating the retinoblastoma protein. The ability of these complexes to phosphorylate RB is inhibited by a family of low molecular weight proteins, including p16, p15 and p18. Germline mutations in the p16 gene have been identified in approximately half of families with hereditary A mutation is described in CDK4 in two unrelated melanoma families that do not carry germline p16 mutations. This CDK4-R24C mutation was detected in 11/11 melanoma patients, 2/17 unaffecteds and 0/5 spouses. This mutation has a specific effect of the p16 binding domain of CDK4, but has no effect on its ability to bind cyclin D and form a functional kinase. Therefore, the germline R24C mutation in CDK4 generates a dominant oncogene that is resistant to normal physiological inhibition by p16.

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