[3]Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. British Journal of Cancer 2007; 96(1):11–15. [4]Ferrone CR, Levine DA, Tang LH, et al. BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. Journal of Clinical Oncology 2009; 27(3...
BRCA1 and BRCA2 gene mutations and risk of breast cancer: public health perspectives. Am J Prev Med. 1999; 16(2):91-8.Coughlin SS, Khoury MJ, Steinberg KK. BRCA1 and BRCA2 gene mutations and risk of breast cancer:: Public health perspectives. American journal of preventive medicine 1999...
这些技术足够灵敏,可以检测低水平的突变,但都不能用于检测大的重排,如整个外显子的缺失。近日,一组来自波兰的研究团队在杂志Scientific reports上发表了一篇题为“New, fast and cheap prediction tests for BRCA1 gene mutations identifcation in clinical samples”的文章。这项工作开发了使用表面等离子体共振(S...
一、BRCA1和BRCA2是什么? 乳腺癌易感基因(breastcancer susceptibility gene,BRCA)包括BRCA1和BRCA2,是重要的抑癌基因,其编码产物参与DNA损伤同源性重组修复。BRCA1/2其实“人性本善”,它们是抑制肿瘤生长的基因,由BRCA1/2编码产生的蛋白,可以帮助人体修复损伤的DN...
关键词:乳腺癌;BRCA1;BRCA2;哈萨克族;突变中图分类号:R737.9文献标识码:A文章编号:1009—5551(2014)09—1124—06doi:10.3969/j.issn.1009—5551.2014.09.007AnalysisofBRCA1andBRCA2genemutationsinKazakhpatientswithbreastcancerinXinjiangYANGShuyi,FUYan,LUANMeixiang,AdilijiangMaimaitiming,DilimulatiAisimutula(...
在这项研究中,奥拉帕利对携带ATM或CHEK2突变的癌症无临床活性。在BRCA1/2突变癌症中,奥拉帕利可具有活性,并在各种癌症类型中产生持久缓解。 参考文献: Joris, S et al. “Efficacy of olaparib in advanced cancers with germline or somatic mutations in BRCA1, BRCA2, CHEK2 and ATM, a Belgian Precision tu...
图1 BRCA2、ATM基因的致病性胚系突变 Fig. 1 Germline pathogenic and likely pathogenic mutations inBRCA2 andATMgene 图2 BRCA1/2和ATM基因的致病性突变、临床意义不明突变及其频率 Fig. 2 Pathogenic and uncertain significance ...
近日,一组来自波兰的研究团队在杂志Scientific reports上发表了一篇题为“New, fast and cheap prediction tests for BRCA1 gene mutations identifcation in clinical samples”的文章。这项工作开发了使用表面等离子体共振(SPR)或耗散型石英晶体微天平(QCM-D)检测,基于DNA杂交来简单、快速地识别BRCA1突变。作者在合成...
一、BRCA1和BRCA2是什么? 乳腺癌易感基因(breastcancer susceptibility gene,BRCA)包括BRCA1和BRCA2,是重要的抑癌基因,其编码产物参与DNA损伤同源性重组修复。BRCA1/2其实“人性本善”,它们是抑制肿瘤生长的基因,由BRCA1/2编码产生的蛋白,可以帮助人体修复损伤的DNA,从而保证细胞遗传物质的稳定性。当受到某种刺激后...
Gene mutations (ResearchTumor suppressor genes (Physiological aspectsTumor suppressor genes (ResearchWhen you nick yourself and bleed a bit, your body has a system to stop the bleeding and replace the cells that were damaged--but only the few damaged cells. Your body has an amazing system to ...