Medical Journal of the Islamic Republic Of Iran
مجله پزشکی جمهوری اسلامی ایران
Med J Islam Repub Iran
Medical Sciences
http://mjiri.iums.ac.ir
2
journal2
1016-1430
2251-6840
8
10.18869/mjiri
14
8888
13
en
jalali
1394
10
1
gregorian
2016
1
1
30
1
online
1
fulltext
en
The importance of BRCA1 and BRCA2 genes mutations in breast cancer development
Cellular & Molecular Research
Cellular & Molecular Research
Review Article
Review Article
<p dir="ltr" style="text-align: justify;">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.</p>
<p></p>
BRCA1 gene, BRCA2 gene, Mutations, Breast cancer.
484
495
http://mjiri.iums.ac.ir/browse.php?a_code=A-10-1-1001&slc_lang=en&sid=1
Amir
Mehrgou
amirmehrgo@yahoo.com
200319475328460022382
200319475328460022382
No
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Mansoureh
Akouchekian
mackouch@yahoo.com, akouchekian.m@iums.ac.ir
200319475328460022383
200319475328460022383
Yes
Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.