BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review

Hossein Neamatzadeh, Seyed Mostafa Shiryazdi, Seyed Mahdi Kalantar


Background: BRCA1/2 genes mutation prevalence varies among ethnic groups and may be influenced by founder mutations.Understanding BRCA1/2 genes mutations is important for reducing breast cancer (BC) incidence, accurate risk assessment and counseling. This systematic review of the literature was conducted to addressing BRCA1/2 mutations in Iranian BC patients. Materials and Methods: A search for relevant articles was run on before January 2014 using MedLine, PubMed, Science Iranian Database, Google, and Web sites related to the study topic. The key words included: BC and Iran with Genes, BRCA Genes, BRCA1 and BRCA2; “Cancer Genes,” and “Iran.” Results: Thirteen articles retrieved from this search strategy were eligible for this review. The overall BRCA1 mutation rate for Iranian female BC patients was detected 31.8% (377/1183). Although this gene mutation rate for male patients is <0.01%. Eight BRCA1 mutations (c. 4837A > G, c. 3419G > A, c. 3119G > A, c. 2612C > T, c. 3113A > G,c. 2311T > C, c. 4301T > C and c. 4308T > C in BRCA1, and one BRCA2 mutation (c. 6494G > C) were found in multiple case subjects and represent candidate founder mutations. Conclusion: According to these studies, there is heterogeneity in BRCA mutations in Iranian BC patients.


Key words: BRCA1, BRCA2, breast cancer, familial, Iran

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