Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.
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.
Kiwerska
Katarzyna
K
Department of Environmental Mutagenesis, Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland. kassz@man.poznan.pl
Rydzanicz
Małgorzata
M
Kram
Andrzej
A
Pastok
Martyna
M
Antkowiak
Agata
A
Domagała
Wenancjusz
W
Szyfter
Krzysztof
K
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
D019941:Cyclin-Dependent Kinase Inhibitor p16
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