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Low frequency of CDKN2 mutation in endometrial carcinomas
Author(s) -
Peiffer Stacia L.,
Bartsch Detlef,
Whelan Alison J.,
Mutch David G.,
Herzog Thomas J.,
Goodfellow Paul J.
Publication year - 1995
Publication title -
molecular carcinogenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.254
H-Index - 97
eISSN - 1098-2744
pISSN - 0899-1987
DOI - 10.1002/mc.2940130403
Subject(s) - biology , loss of heterozygosity , carcinogenesis , mutation , locus (genetics) , mutation frequency , point mutation , cancer research , cyclin dependent kinase , gene , genetics , microbiology and biotechnology , cell cycle , allele
Abstract 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. © 1995 Wiley‐Liss, Inc.