title: Mutational Status of CDKN2A and TP53 Genes in Laryngeal Squamous Cell Carcinoma.
abstract: Laryngeal squamous cell carcinoma (LSCC) is the second most common tumour of the head and neck. It is characterized by frequent aberrations in two cell-cycle regulators--CDKN2A and TP53. However, LSCC has been often studied as a part of the group of head and neck cancers and not as an individual entity. In the current study we aimed to examine mutation status of CDKN2A and TP53 genes in 108 LSCC patients. DNA was extracted from fresh-frozen tumour tissues; exons 1-3 of CDKN2A and exons 5-8 of TP53 were screened for mutations by direct sequencing. Genetic aberrations in CDKN2A were found in 16 (14.2%) and those in TP53--in 56/108 (51.9%) tumours. Seven mutations (two insertions, three deletions, one missense and one silent) detected in CDKN2A were not described previously. Also, we found seven novel deletions and a novel indel in TP53. No significant associations with clinical features were found. However, TP53 mutations were predominantly observed in smokers with advanced stage tumours. Screening for genetic aberrations in a defined group of LSCC contributes to the knowledge about laryngeal carcinogenesis. Further investigations are required to confirm the observed trends in associations with clinical features.
authors.affiliation: Molecular Medicine Center, Medical University-Sofia, 2 Zdrave street, Sofia, 1431, Bulgaria.
authors.forename: Teodora A
authors.initials: TA
authors.lastname: Todorova
authors.forename: Stanislav H
authors.initials: SH
authors.lastname: Jordanov
authors.forename: Gergana S
authors.initials: GS
authors.lastname: Stancheva
authors.forename: Ivan J
authors.initials: IJ
authors.lastname: Chalakov
authors.forename: Mincho B
authors.initials: MB
authors.lastname: Melnicharov
authors.forename: Kuncho V
authors.initials: KV
authors.lastname: Kunev
authors.forename: Vanio I
authors.initials: VI
authors.lastname: Mitev
authors.forename: Radka P
authors.initials: RP
authors.lastname: Kaneva
authors.forename: Teodora E
authors.initials: TE
authors.lastname: Goranova
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000175:diagnosis / Q000235:genetics*; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D052138:Genes, Neoplasm / Q000235:genetics; D006258:Head and Neck Neoplasms / Q000235:genetics; D006801:Humans; D007822:Laryngeal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011379:Prognosis; D017422:Sequence Analysis, DNA; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D004273:DNA, Neoplasm; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53