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BioMed Research International
Volume 2013, Article ID 928562, 21 pages
Review Article

A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer

Department of Medical Genetics, Tehran University of Medical Sciences, School of Medicine, Tehran, Iran

Received 17 April 2013; Revised 31 July 2013; Accepted 15 August 2013

Academic Editor: Ana Maria Tari

Copyright © 2013 Fatemeh Karami and Parvin Mehdipour. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.