Objective: It has been aimed to analyze the role of pathogenic effects of mutation and expression anomalies occurring on Diaphanous Related Formin 1 (DIAPH1), WASP Actin Nucleation Promoting Factor (WASP), Myosin Heavy Chain 9 (MYH9) , Actinin Alpha 1 (ACNT1) , Filamin A (FLNA) , and Tubulin Beta 1 Class VI (TUBB1) which are known as fundamental cellular skeleton proteins on development and progression of cancer via bioinformatic tools.
Material and Methods: The genome sequence and expression profiles of 594 Colorectal Cancer (CRC) patients were obtained by means of bioinformatic tools which provide data for The Cancer Genome Atlas (TCGA). The mutation patterns of 6 genes were determined in detail and for the prediction of pathogenical properties of identified changes for CRC, Polymorphism Phenotyping v2 (PolyPhen-2), Screening for Non-Acceptable Polymorphisms (SNAP), and Catalogue Of Somatic Mutations In Cancer (COSMIC) tools were employed. Apart from the mutation profile, the effects of existing mutations on messenger Ribonucleic acid (m-RNA) expression and survival were also identified. Moreover, Search Tool for the Retrieval of Interacting Genes/Proteins (STRING) network analysis was realized to further comprehend the function relations of proteins in cellular processes.
Results: There have been 142 distinct point mutations, gene amplification, and deep deletions identified on DIAPH1, WAS, MYH9, ACNT1, FLNA and TUBB1 genes. ACTN1 and FLNA low m-RNA expression level for DIAPH1 increased and the m-RNA expression level was statistically significant (p<0.05). Prognosis wise, the effect of m-RNA expression on survival in the absence of disease was meaningful for FLNA (p=0.011).
Conclusion: Bionformatic analysis data in DIAPH1, WASP, MYH9, ACNT1, FLNA and TUBB1 genes, which are important in CRC pathogenesis revealed in this study will be a guide for future laboratory studies.
Keywords: Cytoskeleton, gene expression, mutation, colorectal cancer
, Didem Torun Ozkan2 
