Neamatzadeh Hossein, Shiryazdi Seyed Mostafa, Kalantar Seyed Mahdi
Department of Medical Genetics, Hematology, Oncology and Genetics Research Center, Shahid Sadoughi Training Hospital, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran.
Department of General Surgery, Breast Disease Research Center, Shahid Sadoughi Training Hospital, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran.
J Res Med Sci. 2015 Mar;20(3):284-93.
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.
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."
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.
According to these studies, there is heterogeneity in BRCA mutations in Iranian BC patients.
BRCA1/2基因突变的患病率在不同种族群体中有所不同，并且可能受到始祖突变的影响。了解BRCA1/2基因突变对于降低乳腺癌（BC）发病率、准确的风险评估和咨询非常重要。本系统文献综述旨在探讨伊朗乳腺癌患者中的BRCA1/2突变情况。
于2014年1月之前使用MedLine、PubMed、伊朗科学数据库、谷歌以及与研究主题相关的网站搜索相关文章。关键词包括：BC和伊朗以及基因、BRCA基因、BRCA1和BRCA2；“癌症基因”以及“伊朗”。
通过该搜索策略检索到的13篇文章符合本综述的要求。伊朗女性乳腺癌患者的总体BRCA1突变率为31.8%（377/1183）。尽管男性患者的该基因突变率<0.01%。在多个病例受试者中发现了8个BRCA1突变（BRCA1中的c. 4837A > G、c. 3419G > A、c. 3119G > A、c. 2612C > T、c. 3113A > G、c. 2311T > C、c. 4301T > C和c. 4308T > C）以及1个BRCA2突变（c. 6494G > C），这些代表候选始祖突变。
根据这些研究，伊朗乳腺癌患者的BRCA突变存在异质性。
