Mutation analysis and copy number alterations of in non-small-cell lung cancer exhibiting over-expression.

KIF23 was recently suggested to be a potential molecular target for the treatment of lung cancer. This proposal is based on elevated expression of in several tumors affecting breast, lung, brain, and liver, and also on the presence of mutations in melanoma and colorectal cancer. Recently, we identified a mutation in the gene causing a rare hereditary form of dyserythropoietic anemia (CDA III) with predisposition to blood cancer. We suggested that overexpression in tumors might be due to the presence of activating somatic mutations, and therefore, mutation screening of the in 15 non-small-cell lung cancer (NSCLC) cases with elevated expression level of was undertaken. Eight sequence variants were found in all samples. Furthermore, one variant was present in two cases, and one variant was case specific. Nine variants were previously reported while one variant lacks frequency information. Nine of ten cases available for single nucleotide polymorphism-array analysis demonstrated aberrant karyotypes with additional copy of entire chromosome 15. Thus, no activating somatic mutations in coding regions of the were found. Furthermore, no mutations were detected in cell cycle genes homology region in promoter responsible for p53-dependent repression of expression. We showed that the elevated level of could be due to additional copy of chromosome 15 demonstrated in 90% of NSCLC cases analyzed in this study. Considering the crucial role of in the final step of mitosis, the gene is a potential molecular marker, and for better understanding of its role in cancer development, more tumors should be analyzed.