A Comprehensive Focus on Global Spectrum ofBRCA1andBRCA2Mutations in Breast Cancer

BioMed Research International - Tập 2013 - Trang 1-21 - 2013
Fatemeh Karami1, Parvin Mehdipour1
1Department of Medical Genetics, Tehran University of Medical Sciences, School of Medicine, Tehran, Iran

Tóm tắt

Breast cancer (BC) is the most common cancer of women all over the world.BRCA1andBRCA2gene mutations comprise the most important genetic susceptibility of BC. Except for few common mutations, the spectrum ofBRCA1andBRCA2mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most importantBRCA1andBRCA2alterations 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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