S. Ghovvati and M. R. Nassiri
Department of Biotechnology, University of Guilan, Rasht, Iran
Breast cancer is the most frequently diagnosed cancer among Iranian women. BRCA1 and BRCA2 are responsible for breast cancer with 50% and 30%, respectively. BRCA1 and BRCA2 are also tumor suppressor gene which take part in DNA repairer mechanism. BRCA1 is a large protein with multiple functional domains and interacts with numerous proteins that are involved in many important biological processes/pathways. Many studies has shown that 185delAG and 5382insC mutations are with high frequency among patients whose facing familial/sporadic breast cancer in the world. The aim of this study was to introduce and establish a simple way to detect of known mutations and in parallel study of 185delAG and 5382insC mutation frequencies in Iranian patients. Blood samples were collected from 100 Iranian breast cancer patients who's hospitalized in Ghaeam and Omid hospital in Mashhad. Control samples also were collected from 30 healthy women after mammography. DNA was extracted by Guanidine thiocyanate method. A panel of ARMS-Primers were designed for detection of AG deletion and C insertion SNPs. After amplifying of BRCA1 gene using ARMS technique, the PCR products were analyzed by electrophoresis on 2% agarose gel. The results indicated that only one 185delAG mutation and two 5382inscC mutation has been detected among collected samples of breast cancer patients. The SPSS analysis results showed there is no significant correlation between these mutations and breast cancer in Iranian population. In conclusion, our results demonstrate that how the ARMS-PCR could be optimize and overcome the hurdles for mutation detection in BRCA1 gene.
Keywords: Breast cancer, BRCA1, 185delAG and 5382insC mutations, ARMS-PCR.