Article

Molecular Biology Reports

, Volume 37, Issue 1, pp 325-332

Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients

  • Katarzyna KiwerskaAffiliated withDepartment of Environmental Mutagenesis, Institute of Human Genetics, Polish Academy of Sciences Email author 
  • , Małgorzata RydzaniczAffiliated withDepartment of Environmental Mutagenesis, Institute of Human Genetics, Polish Academy of Sciences
  • , Andrzej KramAffiliated withDepartment of Pathology, Faculty of Medicine, Pomeranian Medical University
  • , Martyna PastokAffiliated withDepartment of Environmental Mutagenesis, Institute of Human Genetics, Polish Academy of Sciences
  • , Agata AntkowiakAffiliated withDepartment of Environmental Mutagenesis, Institute of Human Genetics, Polish Academy of Sciences
  • , Wenancjusz DomagałaAffiliated withDepartment of Pathology, Faculty of Medicine, Pomeranian Medical University
  • , Krzysztof SzyfterAffiliated withDepartment of Environmental Mutagenesis, Institute of Human Genetics, Polish Academy of SciencesDepartment of Otolaryngology and Oncological Laryngology, University of Medical Sciences

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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.

Keywords

CDKN2A gene mutations Larynx cancer Ankyrin repeats Cell cycle