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Review
. 2013:2013:928562.
doi: 10.1155/2013/928562. Epub 2013 Nov 7.

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer

Fatemeh Karami  1 , Parvin Mehdipour
Affiliations
Review

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer

Fatemeh Karami et al. Biomed Res Int. 2013.

Abstract

Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for few common mutations, the spectrum of BRCA1 and BRCA2 mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most important BRCA1 and BRCA2 alterations which have been encountered in most of the populations. After those Ashkenazi founder mutations, 300T>G also demonstrated sparse frequency in African American and European populations. This review affords quick access to the most frequent alterations among various populations which could be helpful in BRCA screening programs.

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Figures

Figure 1
Figure 1
BRCA1 protein structure with different domains [15].
Figure 2
Figure 2
BRCA2 protein structure with different binding sites [15].
See this image and copyright information in PMC

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