Jacobs Journal of Cancer Science and Research

Low Prevalence of BRCA1 and BRCA2 Common Founder Mutations among Iraqi Breast Cancer Cases and At Risk Families

Published on: 2018-08-04


Introduction Breast cancer is the most common malignancy affecting women worldwide and in Iraq. Most of the cases are sporadic, however, familial cases constitute 5-10%. A strong family history of breast and/or ovarian cancer can often be explained by mutations in BRCA1 or BRCA2. Common founder BRCA1/BRCA2 genetic mutations have not yet been studied on a large scale in Iraqi cohort. Objective: To evaluate the frequency of common founder mutations in BRCA1 and BRCA2 (namely 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2) in a clinic based cohort of mixed phenotype (affecting breast cancer patients and at risk individuals). Methods and Methods: Multiplex PCR was used to screen the most common founder mutations in BRCA1 and BRCA2 in 80 index cases and 20 controls. Results: The data of this investigation indicated that the aforementioned founder mutations were not detected in the tested groups. Conclusion: Our results indicate that 185delAG and 5382insC mutations in BRCA1 and 6174delT in BRCA2 are infrequent among Iraqi breast cancer families. However, further testing (e.g. by MLPA) are recommended to consolidate these findings and identify other relevant mutations.


Breast Cancer; Genetics; BRCA1 &BRCA2 Founder Mutations; Iraq