Document Type: Original Article


Department of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus University, Damascus, Syria


Background: The main goal of the present study was to investigate BRCA1 and BRCA2 mutations in a number of Syrian familial breast cancer cases. We included 50 early onset invasive breast cancer patients from different Syrian families (48 females and 2 males) and 20 healthy women (control group) in the study. All participants were matched for age (28 to 49 years). There were 64% of breast cancer patients who had a significant family history of breast cancer.Methods: DNA was isolated from blood samples and we performed polymerase chain reaction on the isolated DNA to amplify specific target regions (hotspots): exon 2 of the BRCA1 gene and exon 11 of the BRCA2 gene. Polymerase chain reaction products were then sequenced to investigate possible genetic variations that could be present in the examined regions.Results: The sequenced polymerase chain reaction products revealed 3 point mutations that included two deletions and one substitution. An exon 2 mutation was found in 2% of the breast cancer patients. Mutations of exon 11 were each found in 4% of the patient group. We detected no founder mutations. The detected exon 2 mutation was previously mentioned by other researchers and classified as a harmful mutation.Conclusion: To the best of our knowledge, the detected mutations in exon 11 of the BRCA2 gene were not previously identified. A significant association existed between those mutations and the triple negative subtype of breast cancer in Syrian familial breast cancer patients.