首页> 美国卫生研究院文献>British Journal of Cancer >A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories

【2h】

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

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

页面导航

摘要
著录项
相似文献
相关主题

摘要

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的数千种临床相关变异，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。

著录项

期刊名称 British Journal of Cancer
作者
Gillian Ellison; Andrew Wallace; Alexander Kohlmann; Simon Patton;
展开▼
作者单位

展开▼
年(卷),期 2017(117),5
年度 2017
页码 710–716
总页数 7
原文格式 PDF
正文语种
中图分类肿瘤学;
关键词
BRCA NGS method ovarian cancer;

机译：BRCA;NGS;方法;卵巢癌;癌症;

相似文献

外文文献
中文文献
专利

1. A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories [J] . GillianEllison, AndrewWallace, AlexanderKohlmann, British Journal of Cancer . 2017,第5期

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
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] . 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
3. 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
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. Screening for germline BRCA1 BRCA2TP53 and CHEK2 mutations in families at-risk forhereditary breast cancer identified in a population-based study from SouthernBrazil [O] . Edenir Inêz Palmero, Bárbara Alemar, Lavínia Schüler-Faccini, 2016

机译：筛选种系BRCA1BRCA2易感人群的TP53和CHEK2突变南部地区一项基于人群的研究确定了遗传性乳腺癌巴西
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

摘要

著录项

相似文献

相关主题

期刊订阅