title: Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.
abstract: CDKN2A gene belongs to the genes involved in cell cycle regulation. When is absent or inactivated by mutation or promoter hypermethylation a cell may undertake an uncontrolled proliferation. Inactivation of CDKN2A gene is observed in many human malignancies, including larynx cancer. In this study we investigated mutations in exon 1 and exon 2 of CDKN2A gene in a large group of 390 laryngeal cancers. We found 40 different alterations (17%) and nearly half of them was not described previously. Out of these alterations two transversions in codon 108: c.322G>C (Asp108His) and c.322G>T (Asp108Tyr) as well as a G>A transition in codon 110 (Trp110X) were found more frequently (altogether: 7 cases in codon 108 and 10 cases in codon 110). This result, concerning the location of these codons in the ankyrin repeat structures, may suggest that these two codons may be critical hot-spots in larynx carcinogenesis.
authors.affiliation: Department of Environmental Mutagenesis, Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland. kassz@man.poznan.pl
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kiwerska
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Rydzanicz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kram
authors.forename: Martyna
authors.initials: M
authors.lastname: Pastok
authors.forename: Agata
authors.initials: A
authors.lastname: Antkowiak
authors.forename: Wenancjusz
authors.initials: W
authors.lastname: Domagała
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szyfter
mesh_terms: D001483:Base Sequence; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D007822:Laryngeal Neoplasms / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D016366:Open Reading Frames / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16
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