Investigations of the effects of critically located SNP's on MRNA splicing

As a result of genetic tests in cancer patients DNA mutations are detected. It is also necessary to investigate how these mutations affect mRNA and protein. Thanks to online databases that collect information obtained as a result of studies investigating how mutations affect cellular functions, we have the chance to recognize mutations that have been studied and to predict their effects. In order to estimate the results of variants whose effects have not yet been studied, in-silico evaluations are carried out with bioinformatics analysis programs, and the results obtained from these tools are important in determining the clinical significance of mutations. Since the outputs of in-silico analysis performed by using computer programs which are produced by bioinformatics scientists, can only be confirmed after validation with RNA clipping analysis, a new research is required to learn about the mutations whose effects have not yet been identified. In our study, 14 variants, that were detected in genes effective on cancer and whose effects on RNA were unknown, were investigated in order to reveal how variants change mRNA, and as a result, 8 of them are not effective on RNA, 2 of them are suspicious and 4 of them (BRCA1 c.5152 + 5G> A, BRCA1 c.4358-3A> G, APC c.532-1G> A, CHEK2 c.921+2T>A) were found to be pathogenic.