title: CDKN2 mutation is infrequent in german hepatocellular carcinoma.
abstract: For hepatocellular carcinoma, only scarce and controversial data on CDKN2 alterations are available. A high rate of mutations in a Chinese study contrasts with a low rate found in Japanese tumors and a CDKN2 germline mutation in 4/26 Swiss tumors examined. We analyzed 23 hepatocellular carcinomas from German patients for homozygous deletions of CDKN2 by coamplification with the human tyrosine hydroxylase (TH) gene and for CDKN2 mutations by PCR-single strand conformation polymorphism analysis and direct DNA sequencing. Our results indicate the lack of homozygous deletions. In one tumor, DNA sequencing showed a GCG-ACG (alanine-threonine) substitution at codon 148, a polymorphism in exon 2 of CDKN2. We conclude that the alteration of CDKN2 by deletion or mutation appears not to be a frequent event in hepatocarcinogenesis in German patients.
authors.affiliation: Zentrallabor, Medizinische Klinik und Poliklinik, Universität Heidelberg, Germany. Martin_Volkmann@med.uni-heidelberg.de
authors.forename: M
authors.initials: M
authors.lastname: Volkmann
authors.forename: F
authors.initials: F
authors.lastname: Stilgenbauer
authors.forename: W J
authors.initials: WJ
authors.lastname: Hofmann
authors.forename: G
authors.initials: G
authors.lastname: Otto
authors.forename: J H
authors.initials: JH
authors.lastname: Schiff
authors.forename: W
authors.initials: W
authors.lastname: Fiehn
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D006528:Carcinoma, Hepatocellular / Q000453:epidemiology / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D017353:Gene Deletion; D016147:Genes, Tumor Suppressor; D005858:Germany / Q000453:epidemiology; D006720:Homozygote; D006801:Humans; D015994:Incidence; D008113:Liver Neoplasms / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D017931:DNA Primers