Detection of BRCA1 gross rearrangements by droplet digital PCR
作者: Elena V. PreobrazhenskayaIlya V. BizinEkatherina Sh. KuliginaAlla Yu. ShleykinaEvgeny N. SuspitsinOlga A. ZaytsevaElena I. AnisimovaSergey A. LaptievTatiana V. GorodnovaAlexey M. BelyaevEvgeny N. ImyanitovAnna P. Sokolenko
作者单位: 1N.N. Petrov Institute of Oncology
2Peter the Great St.-Petersburg Polytechnic University
3St.-Petersburg State Pediatric Medical University
4Leningrad Regional Oncology Center
5Pavlov First St.-Petersburg State Medical University
6I.I. Mechnikov North-Western Medical University
刊名: Breast Cancer Research and Treatment, 2017, Vol.165 (3), pp.765-770
来源数据库: Springer Nature Journal
DOI: 10.1007/s10549-017-4357-7
关键词: Large genomic rearrangementsDroplet digital PCRBRCA1 mutation
英文摘要: Large genomic rearrangements (LGRs) constitute a significant share of pathogenic BRCA1 mutations. Multiplex ligation-dependent probe amplification (MLPA) is a leading method for LGR detection; however, it is entirely based on the use of commercial kits, includes relatively time-consuming hybridization step, and is not convenient for large-scale screening of recurrent LGRs.
原始语种摘要: Large genomic rearrangements (LGRs) constitute a significant share of pathogenic BRCA1 mutations. Multiplex ligation-dependent probe amplification (MLPA) is a leading method for LGR detection; however, it is entirely based on the use of commercial kits, includes relatively time-consuming hybridization step, and is not convenient for large-scale screening of recurrent LGRs.
全文获取路径: Springer Nature  (合作)
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影响因子:4.469 (2012)

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关键词翻译
关键词翻译
  • PCR Page Control Register
  • digital 数字的
  • genomic 染色体组的
  • gross 
  • droplet 液滴
  • consuming 耗的
  • amplification 放大
  • convenient 方便的
  • constitute 构成
  • entirely 完全地