Investigation of the presence of polymorphism in exons 2 and 3 of the DIRAS3 gene in women with breast cancer and diabetes

The DIRAS3 / NOEY2 / ARHI gene is an imprinting gene with paternal expression on human chromosome 1. Therefore, in individuals whose paternal gene is not expressed the person is at risk for two breast and ovarian cancers. On the other hand, as much as the risk of diabetes increases, the risk of breast cancer increases as well. The purpose of this study is to identify mutations and polymorphisms of exon 2 and 3 and intron 2 of DIRAS3 gene in women with invasive ductal breast cancer, invasive ductal breast cancer-diabetes and diabetes. In this study, four groups of women (control (50), invasive ductal breast cancer (20), invasive ductal breast cancer-diabetes (15) and diabetes (15) were studied After DNA extraction, PCR products were loaded onto agarose gel and sequenced then. The gene reading was done with the help of Gene Runner and Chromas software. Statistical calculations were performed using SNP Alyze V.8.1, assotest and SPSS V.22 software with a significance level of P C locus in Intron 2 of a cancer patient, but no polymorphisms or mutations were found in Exon 2, whereas one type of polymorphism was found at locus 5'UTR c.331 G>A in Exon 3 of cancer patients and control persons. The results of this study showed that among the available polymorphisms, only 5'UTR c.331 G>A polymorphism is associated with breast cancer (P = 0.04).