Identification of Three BRCA۱/۲ 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 BRCA۱ and BRCA۲ mutations in a number of Syrian familial breast cancer cases. We included ۵۰ early onset invasive breast cancer patients from different Syrian families (۴۸ females and ۲ males) and ۲۰ healthy women (control group) in the study. All participants were matched for age (۲۸ to ۴۹ years). There were ۶۴% 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 ۲ of the BRCA۱ gene and exon ۱۱ of the BRCA۲ 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 ۳ point mutations that included two deletions and one substitution. An exon ۲ mutation was found in ۲% of the breast cancer patients. Mutations of exon ۱۱ were each found in ۴% of the patient group. We detected no founder mutations. The detected exon ۲ 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 ۱۱ of the BRCA۲ 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.