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PMID: 27493913 已发表 · epublish 英语

The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.

Medical journal of the Islamic Republic of Iran ·第 30 卷 ·2016-08-05

Mehrgou Amir, Akouchekian Mansoureh

摘要

Many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. Among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. Early detection of mutation carriers in these genes, in turn, can play an important role in its prevention. Because this disease has a high prevalence in half of the global population, female screening of reported mutations in predisposing genes, which have been seen in breast cancer patients, seems necessary. In this review, a number of mutations in two predisposing genes (BRCA1 and BRCA2) that occurred in patients with a family history was investigated. We studied published articles about mutations in genes predisposed to breast cancer between 2000 and 2015. We then summarized and classified reported mutations in these two genes to recommend some exons which have a high potential to mutate. According to previous studies, exons have been reported as most mutated exons presented in this article. Considering the large size and high cost of screening all exons in these two genes in patients with a family history, especially in developing countries, the results of this review article can be beneficial and helpful in the selection of exon to screen for patients with this disease.

关键词
BRCA1 gene BRCA2 gene Breast cancer Mutations
文献信息
期刊
Medical journal of the Islamic Republic of Iran
期刊简称
Med J Islam Repub Iran
ISSN
1016-1430
发表日期
2016-08-05
收录日期
2016-08-05
更新日期
2016-08-08
语言
英语
国家/地区
Iran
NLM ID
8910777
外部链接
PubMed 原文
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