| BRCA1和BRCA2的始祖突变 |
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| 引用本文： | 王玉霞,张娟,解云涛. BRCA1和BRCA2的始祖突变[J]. 国际肿瘤学杂志, 2011, 38(8): 566-568. DOI: 10.3760/cma.j.issn.1673-422X.2011.08.002 |
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| 作者姓名： | 王玉霞 张娟 解云涛 |
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| 作者单位： | 100142,北京大学临床肿瘤学院 北京肿瘤医院暨北京市肿瘤防治研究所乳腺中心 恶性肿瘤发病机制及转化研究教育部重点实验室 |
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| 摘 要： | BRCA1和BRCA2的突变与乳腺癌和卵巢癌的发生密切相关。BRCA1和BRCA2的始祖突变多种多样，而且在不同民族、不同地域的人口中突变类型和频率不尽相同。在特定的人口中，始祖突变由于存在始祖效应，其发生率较高。与昂贵的全基因扫描相比，始祖突变检测更加方便、经济和易于普及，能为相关癌症的预防和治疗提供信息。
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| 收稿时间： | 2011-03-25; |
Founder mutations of BRCA1 and BRCA2 |
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| WANG Yu-xia,ZHANG Juan,XIE Yun-tao. Founder mutations of BRCA1 and BRCA2[J]. Journal of International Oncology, 2011, 38(8): 566-568. DOI: 10.3760/cma.j.issn.1673-422X.2011.08.002 |
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| Authors: | WANG Yu-xia ZHANG Juan XIE Yun-tao |
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| Abstract: | Mutations of BRCA1 and BRCA2 are closely related to developing of breast cancer and ovarian cancer. There are a great diversity of founder mutations of BRCA1 and BRCA2. Their types and fre quency are greatly different in populations from different geographic regions and ethnicities. In particular ethnic groups, founder mutations show a high frequency due to a founder effect. Compared with the expensive whole genomic scan, screening of founder mutations which could provide information for the prevention and treatment of related cancer is more convenient and easy to popularize with low cost. |
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| Keywords: | Genes,BRCA1 Genes,BRCA2 Mutation |
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