Abstract:
Breast cancer is the most common cancer and the main causes of death among women worldwide. It is growing strongly in the developing countries. In Ethiopia, though there has not been an adequate study the incidence of new cases of breast cancer is currently increasing and has become one of the most common cancer types causing high rates of morbidity and mortality. Mutation on BRCA1 gene at 185delAG and 5832insC regions has been demonstrated as the most common genetic factors that increases the occurrence of breast cancer. Therefore, the aim of the present study was detecting the Frequency of185del AG and 5832insC mutation in BRCA1 gene and its associated risk factors among breast cancer positive patients visited at university of Gondar comprehensive specialized and Bahirdar Felege Hiwot hospitals. cross sectional study was conducted for100 blood samples of females with breast cancer. The Genomic DNA was isolated from those blood samples. PCR amplification were done, using primer pairs that specific for either the wild-type or mutant sequences of the 185delAG and 5832insC regions. Afterwards, the amplified DNA was digested with restriction endonucleases enzyme (HinfI) to detect 185delAG and 5382insC mutated regions of BRCA1 gene using 2% agarose gel electrophoresis and the data was analyzed by SPSS Version 23. Among the socio demographic characteristics of the study participants both family history (P= 0.022) and age (P= 0.026) had significant association with the mutation 185delAG in BRCA1 gene. Whereas alcohol consumption and residence zone of the participant had no significant association (P= 0.686 and P= 0.580) with the mutation 185delAG. Family history was the only variable which had a significant association (P=0.001) with the mutation 5382insC in BRCA1 gene. On the other hand, alcohol consumption (P=0.542), age (P=0.376) and residence zone (P=0.856) of the participant did not show statically significance toBRCA1 5382insC mutation. The total frequency of 185delAG and 5382insC BRCA1 gene mutation in the study participants were found to be 9% and 6% respectively. Moreover, age and family history were considered to be the major risk factors for BRCA1 185delAG mutation and meanwhile, family history was the only risk factor for BRCA1 5382inC mutation, at 5% level of significant. The present study confirmed that, 185AGdel and 5382insC were the most common BRCA1 alterations which have been encountered in most of breast cancer patients.
Key Words: Breast cancer; BRAC1gene; 5382insC mutation; 185delAG mutation.
