Mutations and Expression Profile of EDIL3 and Correlation with HIF1A and Tumor-Associated Carbonic Anhydrases in Pancreatic Cancer


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Akın D. F., Ilıkcı Sagkan R.

Clinical and Experimental Health Sciences, cilt.11, sa.3, ss.418-425, 2021 (ESCI) identifier

Özet

Objective: Epidermal growth factor-like repeats and discoidin I-like domains 3 (EDIL3) expression is upregulated in some types of cancer which means that it can be used as a candidate tumor marker. The expression level of EDIL3 as a marker of the hypoxic microenvironment of pancreatic cancer was assessed by studying its relationship with the expression of tumor-associated carbonic anhydrases (CA IX and CA XII) and Hypoxiainducible factor-1 (HIF-1) in tumor development. Methods: Gene expression and mutation profiles of pancreatic cancer patients and healthy tissue samples were downloaded The Cancer Genome Atlas (TCGA), and the genetic alterations and expression levels of the EDIL3, HIF-1α, CA IX and CA XII genes were analyzed. Additionally, PolyPhen-2 and SNAP tools were used to prediction and confirmation of detected alterations pathogenicity and survival analysis was performed. Results: Expression levels of EDIL3, HIF-1α and CA IX were found to be statistically significant higher in the patient compared to healthy group and we showed also positive correlation between EDIL3 and HIF-1α gene expression. Furthermore, low CA IX and CA XII expression levels were found effective on overall survival (p<0.05). Additionally, 8 missense mutations were detected in the coding region of studied genes. Conclusion: We suggested that relationship between EDIL3 and HIF-1α in pancreatic cancer and EDIL3 is a novel molecule cancer development in pancreatic cancer.