Identification of Three BRCA1/2 Mutations and a Study of the Likelihood of an Association with Certain Characteristics in Syrian Familial Breast Cancer Patients

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.