A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories

GillianEllison; AndrewWallace; AlexanderKohlmann; and SimonPatton

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A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories

机译：欧洲20个临床诊断实验室使用种系BRCA1和BRCA2突变筛选方法的比较研究

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Background:Thousands of clinically relevant variations in BRCA1 and BRCA2 have been discovered and this poses a significant challenge with respect to the accurate detection, analysis turn-around time, characterisation and interpretation of these sequence variants.

机译：背景：已经发现了BRCA1和BRCA2的数千个临床相关变异，这对准确检测，分析周转时间，表征和解释这些序列变异构成了重大挑战。

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《British Journal of Cancer 》 |2017年第5期| 共7页
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GillianEllison; AndrewWallace; AlexanderKohlmann; and SimonPatton;
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1. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil [J] . Palmero Edenir Inêz, Alemar Bárbara, Schüler-Faccini Lavínia, Genetics and molecular biology: publication of the Sociedade Brasileira de Genetica . 2016 ,第2期

机译：来自巴西南部的一项基于人群的研究确定了遗传性乳腺癌高危家庭的生殖系BRCA1，BRCA2，TP53和CHEK2突变
2. Screening for germline BRCA1 , BRCA2 , TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil [J] . Patricia Lisb?a Izetti Ribeiro, Patricia Ashton-Prolla, Lavínia Schüler-Faccini, Genetics and molecular biology: publication of the Sociedade Brasileira de Genetica . 2016 ,第2期

机译：在巴西南部一项基于人群的研究中确定了遗传性乳腺癌风险家庭中的种系BRCA1，BRCA2，TP53和CHEK2突变
3. Erratum: Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: Results from the initial screening round of the IMPACT study (European Urology (2014) 66 (489-99)) [J] . Rosalind A. Eeles Indian heart journal . 2015 ,第6期

机译：错误：在BRCA1和BRCA2突变载体中靶向前列腺癌筛选：来自影响研究的初始筛选轮程的结果（欧洲泌尿外科（2014）66（489-99））
4. A Fast and Reliable Amplicon-Based NGS Strategy for Screening of Germ-Line Mutations in BRCA1 and BRCA2 Genes [C] . Dawn Obermoeller, Jiri Nehyba, Radmila Hrdlickova, International Molecular Medicine Tri-Conference. . 2016

机译：基于快速且可靠的扩增子NGS策略，用于筛选BRCA1和BRCA2基因的细菌突变
5. BRCA1 and BRCA2 Mutation Carrier Perspectives on Direct-to-Consumer Genetic Testing for BRCA Mutations [D] . Mitchell, Caitlyn E. 2019

机译：BRCA1和BRCA2突变载体对BRCA突变的直接消费遗传检测的视角
6. A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories [O] . Gillian Ellison, Andrew Wallace, Alexander Kohlmann, 2017

机译：欧洲20个临床诊断实验室使用种系BRCA1和BRCA2突变筛选方法的比较研究
7. Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil [O] . Edenir Inêz Palmero, Bárbara Alemar, Lavínia Schüler-Faccini, 2016

机译：在巴西南部的一项基于人群的研究中发现的遗传性乳腺癌家系中种系BRCa1，BRCa2，Tp53和CHEK2突变的筛查

A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories

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