Author/Authors :
Kalantar, Seyed Mahdi Department of Medical Genetics - Hematology, Oncology and Genetics Research Center , Neamatzadeh, Hossein Department of Medical Genetics - Hematolog - Oncology and Genetics Research Center , Shiryazdi, Seyed Mostafa Department of General Surgery - Breast Disease Research Center - Shahid Sadoughi Training Hospital - Shahid Sadoughi University of Medical Sciences and Health Services, Yazd
Abstract :
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.
Keywords :
familial , breast cancer , BRCA2 , BRCA1 , Iran