Results:The results showed 60 pathogenic mutations in 23 tumour associated genes. The most commonly mutated gene was TP53, with 28 (46.67%) variants with pathogenic prediction. We found 7 new pathogenic variants in TP53 gene in 7 patients. The second most mutated genes were PIK3CA and FBWX7 with 4 pathogenic variants each. We found all together 27 (45%) non published variants with pathogenic predictions in CDH1, CDKN2A, ERBB4, FBXW7, NOTCH1, PIK3CA, SMARCB1, TP53, FGFR2, FLT3, GNAQ, GNAS, KRD, NRAS, SMAD4, STK11, VHL genes. One benign and known pathogenic variants, relevant to cancer treatment, were found in KRAS, PIK3CA and TP53.
Conclusion: In conclusion, molecular profiling of laryngeal cancer with NGS could reveal the genetic architecture of LSCC and offer opportunities for prediction of response to existing target therapies and finding new therapeutic targets, which is a step forward in individualized medicine.
Acknowledgements:This work was supported by Grants 550/21.01.2016/Contract №30/2016/MU-Sofia; DUNK01/ 2/2009/NSF.
S. Giragosyan: None. T. Popov: None. V. Petkova: None. G. Stancheva: None. D. Kachakova: None. K. Mihova:None. J. Rangachev: None. V. Mitev: None. D. Popova:None. R. Kaneva: None.
P12.115C
Investigation of thymoquinone effect on laryngeal cancer cells with KRAS mutant
V. B. Yenigun1,2, H. Acar3, T. Cora2, A. Yenigun4, A. Kocyigit1 1Bezmialem Vakif University, Faculty of Medicine, Department of Medical Biochemistry, Istanbul, Turkey,2Selcuk University, Faculty of Medicine, Department of Medical Genetics, Konya, Turkey,3Diagen Biotechnology, Ankara, Turkey,4Bezmialem Vakif University, Faculty of Medicine, Department of Otorhinolaryngology, Istanbul, Turkey
Introduction: Larynx cancer constitutes about 2% of all cancers and 25% of head and neck cancers. KRAS oncogene is a member of the RAS gene family. When KRAS is mutated, the gene functions as "open" as a result. KRAS mutation has been shown to be effective in the development of head and neck cancer. Phyto-therapy practices are subject to rapid cancer research in the world. Since active ingre-dients of many drugs are plant original, the interest to plants increases. Many plants used in the early conventional treatments have become the subject of numerous important molecular research studies. Thymoquinone is one of the active ingredients of Nigella sativa known also as the black cumin. Many of the biological effects of these seeds have
been shown that they are through the effect of thymoqui-none. Introducing the apoptotic activity of thymoquinone on laryngeal cancer provides basis to investigate the ther-apeutic efficacy of this ingredient.
Materials and Methods: The apoptotic effect of thymoquinone on the laryngeal cancer cell line was determined by MTT and Sulphurodamine B cytotoxicity tests. Its effect on the mutant KRAS gene transfected cells was observed through MTT and intracellular ATP analysis. Results: Thymoquinone has cytotoxic effect on the laryngeal cancer cells and cell death was decreased in the cells carrying mutation in the coding region of KRAS gene. However, cell death increase was observed in cells having mutation in the coding and non-coding region of KRAS gene.
Conclusions: It was observed that thymoquinone inter-acts with KRAS oncogene.
V.B. Yenigun:None. H. Acar: None. T. Cora: None. A. Yenigun: None. A. Kocyigit: None.
P12.116D
Expression of LINC01330,long intergenic non-protein coding RNA 1330, in serous ovarian carcinoma
S. Valeh Sheida1, S. Mowla1, S. Azizmohamadi2
1TMU, Tehran, Iran, Islamic Republic of,2Hajar Hospital, Tehran, Iran, Islamic Republic of
Introduction:Among common cancers in women, ovarian cancer has the lowest incidence; however, mortality rates are more than other gynecological cancers due to the lack of specific symptoms during early stages and absence of diagnostic markers. Comparative genomic hybridization (CGH) demonstrated high frequency of 3q25-26 copy number gains (CNGs) in ovarian carcinomas. Serous papillary carcinoma as a common type of epithelial ovarian cancer shows singular copy number variations (CNV) of this region. This chromosomal region contains many protein coding genes and some of them have an oncogenic role, including PIK3CA, Sox2, and HTERC. LINC01330 (LRRC77P) which is a Pseudogene, located in this con-troversial region and led us to make more extensive studies of its expression alteration in serous ovarian cancer. According to following study, LINC01330 has shown a remarkable change.
Materials and Methods: In this study, expression of LINC01330 was evaluated in fresh frozen tissues. Total RNA was isolated from the tissues and cDNA synthesis was performed. Semi-quantitative RT-PCR technique was used and the validity of PCR products was determined by Sanger sequencing. The expression level of LINC01330 was evaluated by real-time PCR. Result: Our finding revealed
