A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

Concolino Paola; Rizza Roberta; Mignone Flavio; Costella Alessandra; Guarino Donatella; Carboni Ilaria; Capoluongo Ettore; Santonocito Concetta; Urbani Andrea; Minucci Angelo

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A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

机译：乳腺癌和卵巢癌分子诊断中立即复制数变异（CNV）检测的全面BRCA1 / 2 NGS管道

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Background: The aim of this study was to assess the ability of a Next Generation Sequencing (NGS)-based approach in the detection of BRCA1/2 Large Genomic Rearrangements (LGRs).

机译：背景：本研究的目的是评估下一代测序（NGS）的方法在检测BRCA1 / 2大型基因组重排（LGR）中的方法。

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来源
《Clinica chimica acta: International journal of clinical chemistry and applied molecular biology》 |2018年第2018期|共7页
作者
Concolino Paola; Rizza Roberta; Mignone Flavio; Costella Alessandra; Guarino Donatella; Carboni Ilaria; Capoluongo Ettore; Santonocito Concetta; Urbani Andrea; Minucci Angelo;
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作者单位

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

Univ Piemonte Orientate Dept Sci &

Innovat Technol DISIT Alessandria Italy;

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

Univ Cattolica Sacro Cuore Inst Legal Med Largo A Gemelli 8 I-00168 Rome Italy;

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

Univ Cattolica Sacro Cuore Inst Biochem &

Clin Biochem Lab Mol Biol Largo A Gemelli 8 I-00168;

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原文格式 PDF
正文语种 eng
中图分类诊断学;
关键词
Breast cancer; BRCA1/2; Large genomic rearrangements; Next generation sequencing; Mutations detection;

机译：乳腺癌;BRCA1 / 2;大型基因组重排;下一代测序;突变检测;

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专利

1. A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis [J] . Concolino Paola, Rizza Roberta, Mignone Flavio, Clinica chimica acta: International journal of clinical chemistry and applied molecular biology . 2018,第期

机译：乳腺癌和卵巢癌分子诊断中立即复制数变异（CNV）检测的全面BRCA1 / 2 NGS管道
2. Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing [J] . Byers Helen, Wallis Yvonne, van Veen Elke M., European journal of human genetics: EJHG . 2016,第11期

机译：高风险乳腺癌/卵巢癌/男性乳腺癌家庭BRCA1 / 2检测的敏感性：全面的RNA / NGS面板检测的贡献很小
3. Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing [J] . Byers Helen, Wallis Yvonne, van Veen Elke M., European journal of human genetics: EJHG . 2016,第11期

机译：BRCA1 / 2在高风险乳腺/卵巢/男性乳腺癌家庭中测试的敏感性：综合RNA / NGS面板测试的贡献几乎没有贡献
4. Noninvasive Cell-Free DNA-Based Detection of Copy Number Variations in Breast and Ovarian Cancer Samples Using Single Nucleotide Polymorphism-Targeted Massively Multiplexed PCR [C] . Zachary Demko, Bernhard G. Zimmermann, Eser Kirkizlar, International Molecular Medicine Tri-Conference. . 2015

机译：使用单核苷酸多态性靶向大规模多重PCR的非侵入性细胞基于乳腺癌和卵巢癌样品的拷贝数变异的检测
5. Identification, exploitation and manipulation of BRCA1-dependent dna double-strand break and interstrand crosslink repair in breast and ovarian cancer therapy. [D] . Stecklein, Shane Richard. 2012

机译：乳腺癌和卵巢癌治疗中依赖BRCA1的dna双链断裂和链间交联修复的鉴定，开发和操作。
6. Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing [O] . Helen Byers, Yvonne Wallis, Elke M van Veen, 2016

机译：高风险乳腺癌/卵巢癌/男性乳腺癌家庭BRCA1 / 2检测的敏感性：全面的RNA / NGS面板检测的贡献很小
7. Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing [O] . Byers, Helen, Yvonne Wallis,, Van Veen, Elke, 2016

机译：BRCa1 / 2测试对高风险乳腺/卵巢/男性乳腺癌家族的敏感性：综合RNa / NGs小组测试的贡献很小

A comprehensive BRCA1/2 NGS pipeline for an immediate Copy Number Variation (CNV) detection in breast and ovarian cancer molecular diagnosis

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