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    Comprehensive Mutation Analysis of the RAS/RAF/MEK/ERK Pathway in Paediatric Leukaemia and Significant Inferences
    (Medcom Ltd, 2021) Akin-Bali, D. F.; Aktas, S. H.; Ozcan, A.; Yilmaz, E.; Aydin, F.; Gok, V; Unal, E.
    Objectives: Leukaemia is the most common cancer among paediatric population accounting for about 30% of paediatric cancer. As it's known, germ line mutations increase the risk of development of haematopoietic malignancy in childhood and deregulation of the Rat Sarcoma Viral Proto-Oncogene/Raf-1 Proto-Oncogene/Mitogen-Activated Protein Kinases/Extracellular Regulated Kinases (RAS/RAF/MEK/ERK) pathway is often caused by somatic mutations in the genes coding proteins of KRAS, NRAS, FLT3, PTPN11 and BRAF. However, mutations in this pathway in paediatric Acute Lymphoblastic Leukaemia (ALL) have not been thoroughly investigated, yet. Methods: Specific exons of 7 significant genes which were frequently mutated in the RAS/RAF/MEK/ERK pathway were determined inclusively by DNA sequence analysis in 27 children with leukaemia. PolyPhen-2 and SNAP tools were used to verify and estimate the determined changes. Also, evolutionary conservation analysis was performed. Results: Seven changes out of 22 changes were identified for the first time in this study. ERK2 p.P319S (18.5%) mutation and KRAS splice site mutation (3.7%) were predicted to be pathogenic. ERK2 p.P319S mutations was found to be pathogenic and at the critical point on the aminoacid which is evalutionary conserved. Although the frequency of mutations in ERK2 is very low in cancers (0.88%), the frequency of ERK2 p.P319S missense change was detected in our study at a significant rate such as 18.5%. Conclusion: There is limited knowledge about ERK inhibitors in leukaemia. The low frequency of ERK gene compared to KRAS and NRAS genes does not make ERK mutations less important. Our findings indicate the importance of this pathway mutations in paediatric ALL and associated with high risk leukaemia group characteristics. Hence, it can be evaluated as a signalisation pathway to target pharmacologically.
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    STAT3 expression is correlated with pathological stage in luminal subtypes of breast carcinoma
    (Aepress Sro, 2020) Eroglu, M.; Kokenek-Unal, T. D.; Akin-Bali, D. F.; Kirimlioglu, S. H.
    AIM: STATs and HIFs in human solid tumors play an important role in mechanisms of tumor growth. The aim of this study was to determine the prognostic role of STATs and HIFs in breast cancers. METHODS: Twenty-four breast carcinoma cases who underwent mastectomy and axillary dissection were included into the study. The presence of STATs and HIFs in 24 breast cancer cases was evaluated immunohistochemically. We evaluated the differences in tumor grade, diameter, limits, intratumor desmoplasia, inflammatory infiltration, necrosis, axillary lymph node involvement, estrogen, progesterone and CerbB2 staining. RESULTS: In this study, the presence of STATs and HIFs expressions in breast tumors is shown. In our study, no statistically significant correlation was found between tumor grade, diameter, limits, intratumor desmoplasia, inflammatory infiltration, necrosis, axillary lymph node involvement, CerbB2 staining status and STATs and HIFs expressions. However, STAT5a and estrogen staining and HIF2 alpha and progesterone staining were found statistically significant. In addition, STAT3 expression was found to have significantly higher correlation with luminal breast cancer. CONCLUSIONS: The findings suggest that STATs and HIFs may play a role in the development of invasive ductal carcinomas; concerning their future use as treatment options due to their association with hormone receptors, new studies are required (Tab. 6, Fig. 7, Ref. 65).