PMID- 25149524 OWN - NLM STAT- MEDLINE DCOM- 20160222 LR - 20211021 IS - 1532-2807 (Electronic) IS - 1219-4956 (Linking) VI - 21 IP - 2 DP - 2015 Apr TI - Mutational Status of CDKN2A and TP53 Genes in Laryngeal Squamous Cell Carcinoma. PG - 413-21 LID - 10.1007/s12253-014-9836-0 [doi] AB - 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. FAU - Todorova, Teodora A AU - Todorova TA AD - Molecular Medicine Center, Medical University-Sofia, 2 Zdrave street, Sofia, 1431, Bulgaria. FAU - Jordanov, Stanislav H AU - Jordanov SH FAU - Stancheva, Gergana S AU - Stancheva GS FAU - Chalakov, Ivan J AU - Chalakov IJ FAU - Melnicharov, Mincho B AU - Melnicharov MB FAU - Kunev, Kuncho V AU - Kunev KV FAU - Mitev, Vanio I AU - Mitev VI FAU - Kaneva, Radka P AU - Kaneva RP FAU - Goranova, Teodora E AU - Goranova TE LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20140823 PL - Switzerland TA - Pathol Oncol Res JT - Pathology oncology research : POR JID - 9706087 RN - 0 (Cyclin-Dependent Kinase Inhibitor p16) RN - 0 (DNA, Neoplasm) RN - 0 (TP53 protein, human) RN - 0 (Tumor Suppressor Protein p53) SB - IM MH - Carcinoma, Squamous Cell/diagnosis/*genetics MH - Cyclin-Dependent Kinase Inhibitor p16/*genetics MH - DNA, Neoplasm/genetics MH - Female MH - Genes, Neoplasm/genetics MH - Head and Neck Neoplasms/genetics MH - Humans MH - Laryngeal Neoplasms/diagnosis/*genetics MH - Male MH - Middle Aged MH - Mutation/*genetics MH - Prognosis MH - Sequence Analysis, DNA MH - Tumor Suppressor Protein p53/*genetics EDAT- 2014/08/26 06:00 MHDA- 2016/02/24 06:00 CRDT- 2014/08/24 06:00 PHST- 2014/05/24 00:00 [received] PHST- 2014/08/13 00:00 [accepted] PHST- 2014/08/24 06:00 [entrez] PHST- 2014/08/26 06:00 [pubmed] PHST- 2016/02/24 06:00 [medline] AID - 10.1007/s12253-014-9836-0 [doi] PST - ppublish SO - Pathol Oncol Res. 2015 Apr;21(2):413-21. doi: 10.1007/s12253-014-9836-0. Epub 2014 Aug 23.