LOW-FREQUENCY OF CDKN2 MUTATION IN ENDOMETRIAL CARCINOMAS

The CDKN2 gene on chromosome 9p21 encodes the p16 inhibitor of cyclin D/cyclin-dependent kinase 4 complexes. Mutations and deletions of CDKN 2 have been frequently identified in cell lines, whereas most primary tumors have demonstrated a lower frequency of alteration. To assess th e role of CDKN2 in endometrial tumorigenesis, 34 tumor samples were ex amined for loss of heterozygosity at 9p21 and mutation in CDKN2. To id entify tumors that had lost 9p21, samples were genotyped with markers flanking the CDKN2 locus. The frequency of CDKN2 mutation in endometri al carcinomas was determined by single-strand conformation variant ana lysis and direct sequencing of variants. Of the 34 tumors examined, th ree revealed loss of 9p21 sequences. Two samples were characterized by point mutations in CDKN2, one of which also showed loss Of 9p21 seque nces. (C) 1995 Wiley-Liss, Inc.