一种用于乳腺癌和卵巢癌分子诊断中即时检测拷贝数变异（CNV）的综合BRCA1/2二代测序流程。 - Suppr

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

作者信息

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

机构信息

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.

出版信息

Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.

DOI:10.1016/j.cca.2018.02.012

PMID:29458049

Abstract

摘要

相似文献

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

Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.

Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.

J Mol Diagn. 2017 Nov;19(6):809-816. doi: 10.1016/j.jmoldx.2017.07.003. Epub 2017 Aug 17.

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16.

Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing.

Clin Chim Acta. 2020 Jun;505:49-54. doi: 10.1016/j.cca.2020.02.023. Epub 2020 Feb 21.

BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

Genes Chromosomes Cancer. 2016 Oct;55(10):803-13. doi: 10.1002/gcc.22383. Epub 2016 Jul 4.

Detection of large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods.

Expert Rev Mol Diagn. 2019 Sep;19(9):795-802. doi: 10.1080/14737159.2019.1657011. Epub 2019 Aug 28.

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.

BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6.

Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.

Exp Mol Pathol. 2020 Oct;116:104483. doi: 10.1016/j.yexmp.2020.104483. Epub 2020 Jun 10.

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.

引用本文的文献

Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) Variant.

Cancers (Basel). 2025 Jun 8;17(12):1906. doi: 10.3390/cancers17121906.

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Hum Genomics. 2024 Jun 18;18(1):68. doi: 10.1186/s40246-024-00623-7.

AMD1 promotes breast cancer aggressiveness via a spermidine-eIF5A hypusination-TCF4 axis.

Breast Cancer Res. 2024 Apr 23;26(1):70. doi: 10.1186/s13058-024-01825-6.

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

PLoS Genet. 2023 Aug 14;19(8):e1010889. doi: 10.1371/journal.pgen.1010889. eCollection 2023 Aug.

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.

Genes (Basel). 2023 Jun 16;14(6):1275. doi: 10.3390/genes14061275.

ITGB1-mediated molecular landscape and cuproptosis phenotype induced the worse prognosis in diffuse gastric cancer.

Front Oncol. 2023 Mar 16;13:1115510. doi: 10.3389/fonc.2023.1115510. eCollection 2023.

Deep-Learning to Predict BRCA Mutation and Survival from Digital H&E Slides of Epithelial Ovarian Cancer.

Int J Mol Sci. 2022 Sep 26;23(19):11326. doi: 10.3390/ijms231911326.

Evaluation of the Available Variant Calling Tools for Oxford Nanopore Sequencing in Breast Cancer.

Genes (Basel). 2022 Sep 3;13(9):1583. doi: 10.3390/genes13091583.

Elevated transcription and glycosylation of B3GNT5 promotes breast cancer aggressiveness.

J Exp Clin Cancer Res. 2022 May 7;41(1):169. doi: 10.1186/s13046-022-02375-5.

Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation.

Mol Biol Rep. 2021 Dec;48(12):8203-8209. doi: 10.1007/s11033-021-06812-0. Epub 2021 Oct 13.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

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

作者信息

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

机构信息

Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University of Sacred Heart, Largo A. Gemelli 8, 00168 Rome, Italy.

出版信息

Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.

DOI:10.1016/j.cca.2018.02.012

PMID:29458049

Abstract

摘要

相似文献

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

Clin Chim Acta. 2018 May;480:173-179. doi: 10.1016/j.cca.2018.02.012. Epub 2018 Feb 16.

Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow.

J Mol Diagn. 2017 Nov;19(6):809-816. doi: 10.1016/j.jmoldx.2017.07.003. Epub 2017 Aug 17.

Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.

J Mol Diagn. 2012 May-Jun;14(3):286-93. doi: 10.1016/j.jmoldx.2012.01.013. Epub 2012 Mar 16.

Detection of BRCA1/2 large genomic rearrangement including BRCA1 promoter-region deletions using next-generation sequencing.

Clin Chim Acta. 2020 Jun;505:49-54. doi: 10.1016/j.cca.2020.02.023. Epub 2020 Feb 21.

BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

Genes Chromosomes Cancer. 2016 Oct;55(10):803-13. doi: 10.1002/gcc.22383. Epub 2016 Jul 4.

Detection of large genomic rearrangements in breast and ovarian cancer patients: an overview of the current methods.

Expert Rev Mol Diagn. 2019 Sep;19(9):795-802. doi: 10.1080/14737159.2019.1657011. Epub 2019 Aug 28.

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Eur J Hum Genet. 2014 Nov;22(11):1305-13. doi: 10.1038/ejhg.2014.16. Epub 2014 Feb 19.

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples.

BMC Cancer. 2019 Apr 27;19(1):396. doi: 10.1186/s12885-019-5584-6.

Validation of a next generation sequencing assay for BRCA1, BRCA2, CHEK2 and PALB2 genetic testing.

Exp Mol Pathol. 2020 Oct;116:104483. doi: 10.1016/j.yexmp.2020.104483. Epub 2020 Jun 10.

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

BMC Med Genomics. 2015 May 7;8:19. doi: 10.1186/s12920-015-0092-2.

引用本文的文献

Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) Variant.

Cancers (Basel). 2025 Jun 8;17(12):1906. doi: 10.3390/cancers17121906.

Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

Hum Genomics. 2024 Jun 18;18(1):68. doi: 10.1186/s40246-024-00623-7.

AMD1 promotes breast cancer aggressiveness via a spermidine-eIF5A hypusination-TCF4 axis.

Breast Cancer Res. 2024 Apr 23;26(1):70. doi: 10.1186/s13058-024-01825-6.

Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.

PLoS Genet. 2023 Aug 14;19(8):e1010889. doi: 10.1371/journal.pgen.1010889. eCollection 2023 Aug.

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.

Genes (Basel). 2023 Jun 16;14(6):1275. doi: 10.3390/genes14061275.

ITGB1-mediated molecular landscape and cuproptosis phenotype induced the worse prognosis in diffuse gastric cancer.

Front Oncol. 2023 Mar 16;13:1115510. doi: 10.3389/fonc.2023.1115510. eCollection 2023.

Deep-Learning to Predict BRCA Mutation and Survival from Digital H&E Slides of Epithelial Ovarian Cancer.

Int J Mol Sci. 2022 Sep 26;23(19):11326. doi: 10.3390/ijms231911326.

Evaluation of the Available Variant Calling Tools for Oxford Nanopore Sequencing in Breast Cancer.

Genes (Basel). 2022 Sep 3;13(9):1583. doi: 10.3390/genes13091583.

Elevated transcription and glycosylation of B3GNT5 promotes breast cancer aggressiveness.

J Exp Clin Cancer Res. 2022 May 7;41(1):169. doi: 10.1186/s13046-022-02375-5.

Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation.

Mol Biol Rep. 2021 Dec;48(12):8203-8209. doi: 10.1007/s11033-021-06812-0. Epub 2021 Oct 13.

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

作者信息

机构信息

出版信息

相似文献

引用本文的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

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

作者信息

机构信息

出版信息

相似文献

引用本文的文献