BRCA1 testing: Advances and retreats. JAMA 1998 25;279: 955-957.Couch, F. J., & Hartmann, L. C. (1998). BRCA1 testing--advances and retreats. JAMA, 279(12), 955-957.Couch FJ, Hartmann LC. BRCA1 testing—advances and retreats. JAMA 1998; 279(12): 955–957....
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,...
例如定点检测法（targeted testing）、即刻素材检测（PCR）和多重PCR检测（MLPA）等，来检测BRCA1基因突变...
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...
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...
(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...
Informed Consent for BRCA1 and BRCA2 Testing. While the cloning of BRCA1 and BRCA2 in 1994 and 1995 engendered great enthusiasm from cancer patients, their families and physicians, concerns about poten... Rimer,K Barbara,Sugarman,... - 《Breast Disease》 被引量: 16发表: 1998年 Informed ...
7)满足一定家族史条件的乳腺癌及前列腺癌患者;有1个或以上1级或2级血亲满足上述检测标准的个体等(Ⅱ级推荐) 参考文献 [1]基于下一代测序技术的BRCA1/2基因检测 指南(2019版) [2]Economic Evaluation of Population Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems...
Hopefully, mutation testing of BRCA1 will enable more precise risk estimation for the women in breast/ovarian cancer families. However, since different mutations may carry different penetrances, genetic counselling requires knowledge of the genotype/phenotype correlations for the mutation in question. ...
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