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 CDKN2 have been frequently identified in cell lines, whereas most primary tumors have demonstrated a lower frequency of alteration. To assess the role of CDKN2 in endometrial tumorigenesis, 34 tumor samples were examined for loss of heterozygosity at 9p21 and mutation in CDKN2. To identify tumors that had lost 9p21, samples were genotyped with markers flanking the CDKN2 locus. The frequency of CDKN2 mutation in endometrial carcinomas was determined by single-strand conformation variant analysis and direct sequencing of variants. Of the 34 tumors examined, three revealed loss of 9p21 sequences. Two samples were characterized by point mutations in CDKN2, one of which also showed loss of 9p21 sequences.
Peiffer
S L
SL
Department of Surgery, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Bartsch
D
D
Whelan
A J
AJ
Mutch
D G
DG
Herzog
T J
TJ
Goodfellow
P J
PJ
D000483:Alleles; D002277:Carcinoma / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004273:DNA, Neoplasm / Q000235:genetics; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D006801:Humans; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
D002352:Carrier Proteins; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004273:DNA, Neoplasm