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全面聚焦乳腺癌中BRCA1和BRCA2突变的全球谱系。

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

作者信息

Karami Fatemeh, Mehdipour Parvin

机构信息

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

出版信息

Biomed Res Int. 2013;2013:928562. doi: 10.1155/2013/928562. Epub 2013 Nov 7.

DOI:10.1155/2013/928562
PMID:24312913
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3838820/
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.

摘要

乳腺癌（BC）是全球女性中最常见的癌症。BRCA1和BRCA2基因突变构成了BC最重要的遗传易感性。除了少数常见突变外，BRCA1和BRCA2突变谱在不同人群中是异质的。185AGdel和5382insC是在大多数人群中发现的最重要的BRCA1和BRCA2改变。在那些阿什肯纳兹始祖突变之后，300T>G在非裔美国人和欧洲人群中也显示出较低的频率。这篇综述提供了快速获取不同人群中最常见改变的途径，这可能有助于BRCA筛查项目。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4604/3838820/18b301deb37f/BMRI2013-928562.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4604/3838820/e7df69299128/BMRI2013-928562.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4604/3838820/18b301deb37f/BMRI2013-928562.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4604/3838820/e7df69299128/BMRI2013-928562.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4604/3838820/18b301deb37f/BMRI2013-928562.002.jpg

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