期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

BRCA1和BRCA2的始祖突变

Founder mutations of BRCA1 and BRCA2
原文传递
导出
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。 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 frequency are greatly different in populations from different geographic regions and ethnicitics. 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.
作者 王玉霞 张娟 解云涛
机构地区 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
出处 《国际肿瘤学杂志》 CAS 2011年第8期566-568,共3页 Journal of International Oncology
关键词 基因 BRCA1 基因 BRCA2 突变 Genes, BRCA1 Genes, BRCA2 Mutation
分类号 R737.9 [医药卫生—肿瘤]
  • 相关文献

参考文献19

  • 1Fackenthal JD, Olopade OI. Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer, 2007, 7(12) :937-948.
  • 2Petrucelli N, Daly MB, Feldman GL. Hereditary breast and ovarian cancer due to mutations in BRCAI and BRCA2. Genet Med, 2010, 12(5) :245-259.
  • 3Metcalfe KA, Poll A, Royer R, et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol, 2010, 28(3) :387-391.
  • 4King MC, Marks JH, Mandell JB, eta]. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 2003, 302(5645) :643-646.
  • 5Abeliovich D, Kaduri L, Lerer I, et al. The founder mutations 185delAG and 5382insc in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet, 1997, 60(3) : 505-514.
  • 6Antoniou AC, Pharoah PD, Narod S, et al. Breast and ovarian cancer risks to eanlers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J Med Genet, 2005, 42(7):602-603.
  • 7Hamel N, Feng BJ, Foretova L, et al. On the origin and diffusion of BRCA1 e. 5266dupC (5382insC) in European populations. Eur J Hum C, enet, 2011, 19(3) : 300-306.
  • 8Greenwood CM, Sun S, Veenstra J, et al. How old is this mutation? -a study of three Ashkenazi Jewish founder mutations. BMC Genet, 2010, 11:39.
  • 9Lavie O, Narod S, Lejbkowicz F, et al. Double heterozygesity in the BRCA1 and BRCA2 genes in the Jewish population. Ann Onool, 2011, 22(4) :964-966.
  • 10Smith M, Fawcett S, Sigalas E, et al. Familial breast cancer: double heterozygosity for BRCAI and BRCA2 mutations with differing phenotypes. Fam Cancer, 2008, 7(2) :119-124.
国际肿瘤学杂志
2011年 第8期

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部