BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian tumors. This study evaluated the emotional states of women 1 month after having received the results of the genetic test and assessed eventual associations with the type of outcome, personal/familiar disease history...
The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase our understanding of both hereditary and sporadic forms of breast cancer, and to lead to therapeutic and preventive breakthroughs. Much h
1.678例三阴性乳腺癌中有90例BRCA1/2突变(13.3%),其中BRCA1突变74例(82.2%),BRCA2突变共16例(17.8%)。 2.BRCA1/2突变组的pCR(ypT0/ypN0 )率(50%)明显高于非突变组(31.5%)(odds ratio [OR], 2.17;95% CI, 1.37 to ...
Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: A report on the College of American Pathologists proficiency testing surveys. Genet. Med. 2015, 17, 58-62. [CrossRef] [PubMed]Tafe LJ, Datto MB, Palomaki GE, Lacbawan FL (2015) Molecular testing for the BRCA...
1. Miki, Y., et al., A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 1994. 266(5182): p. 66-71. 2. Wooster, R., et al., Identification of the breast cancer susceptibility gene BRCA2. Nature, 1995. 378(6559): p. 789-92. ...
Presymptomatic testing for BRCA1 and BRCA2:how distressing are the pre-test weeks?L N Lodder, P G Frets, R W Trijsburg, E J Meijers-Heijboer, J G M Klijn,H J Duivenvoorden, A Tibben, A Wagner, C A van der Meer, P Devilee, C J Cornelisse,M F Niermeijer, and other members...
根据,国际有很高知名度基因检测科学性证据杂志《Front Oncol》在第 2022 Jul 11;12:951310.期发表了一篇标题为《BRCA 1/2基因检测的成本效益和预防策略:使用中上收入国家的真实数据》的BRAF与肿瘤发生后的
分析(DHPLC)进行预筛,结果进行DNA测序证实。统计分析BRCA1/2基因突变情况。结果 82例遗传性乳 腺癌,共发现8例(9.76 )BRCA基因突变,其中BRCA1突变4例,BRCA2突变4例;4例BRCA突变(2073delA 移码突变、W372X无义突变、6873delCTCC移码突变、9481delA移码突变)在BIC数据库中未见报道。在三阴性乳 ...
Validation of an NGS approach for diagnostic BRCA1/BRCA2 mutation testing. Mol Diagn Ther. 2015;19: 119-30.Dacheva D, Dodova R, Popov I, Goranova T, Mitkova A, Mitev V, et al. Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing. Molecular diagnosis & therapy. ...
When applied to mutations in BRCA1 and BRCA2 genes,which can predict a high risk for breast and ovarian cancer, the SNP test only had a positive predictive value of 4.2%, according to the studypublished Mondayin the journal BMJ Open Access. ...