1.Janet R. Vos; Ingrid E. Fakkert et al. Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer. J Natl Cancer Inst. 2020;112(2):161-169. 封面图片来源:摄图网
参考文献 [1]Armstrong K, Weiner J, Weber B, Asch DA. Early adoption of BRCA1/2 testing: who and why. Genet Med. 2003;5(2):92-98. doi:10.1097/01.GIM.0000056829.76915.2A [2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer f...
基因检测的目的 Purpose of Genetic Testing 作为个体,我们每个人都是独一无二的,但在基因层面,我们其实“相差无几”。全世界任何两个人在一起进行比较,他们基因组的差异也仅有0.5%左右。不要诧异,人类和黑猩猩基因组的相似度约为96%,和阿比西尼亚家猫的的相似度约为90%,和老鼠的相似度约为85%。如果我告诉你,...
检测这两种基因通常包括分子遗传检测（Molecular Genetic Testing），也就是基因突变检测（Gene Mutation Tes...
如果能够在突变携带者患病之前通过BRCA1/2基因检测筛选出突变携带者，则可以通过药物，增加筛查或手术等方式来预防数百万癌症的发生。2020年7月，英国玛丽皇后大学的科研人员在" Cancers"杂志上在线发表了题为"Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health ...
BRCA1 and BRCA2 testing: Weighing the demand against the benefits. Am J Hum Genet 64:943-948.Devilee P. BRCA1 and BRCA2 testing: weighing the demand against the benefits. Am J Hum Genet. 1999; 64 :943–948.P. Devilee, BRCA1 and BRCA2 testing: weighing the demand against the ...
生殖系基因检测(germline genetic testing)现在临床中对于高危人群的检测愈发趋于常规,但是临床医生对于BRCA1/2突变结果的解读培训却远远不够、遗传学专家的相对短缺,造成了更多的混乱。 根据BRCA序列变异与临床患病危险性进行分类。第一类是高致病风险基因,这类基因可能引起一...
[1]Armstrong K, Weiner J, Weber B, Asch DA. Early adoption of BRCA1/2 testing: who and why. Genet Med. 2003;5(2):92-98. doi:10.1097/01.GIM.0000056829.76915.2A [2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1...
(中国医学科学院 北京协和医学院 北京协和医院病理科100730),Email:liangzhiyong1220@yahoo.comDOI:10.3760/cma.j.issn.0529⁃5807.2019.09.002Guideline on next⁃generation sequencing⁃based BRCA1/2 testing (2019)Working Group of Guideline on Next⁃Generation Sequencing⁃Based BRCA1/2 Testing (2019...
Testing for germline BRCA1/2 mutations has an established predictive role in breast cancer risk assessment. More recently, studies have also identified BRCA1/2 status as clinically relevant in the selection of therapy for patients already diagnosed with