Literature DB >> 29458049

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

Paola Concolino1, Roberta Rizza2, Flavio Mignone3, Alessandra Costella2, Donatella Guarino2, Ilaria Carboni4, Ettore Capoluongo5, Concetta Santonocito2, Andrea Urbani2, Angelo Minucci2.   

Abstract

Entities:  

Keywords:  BRCA1/2; Breast cancer; Large genomic rearrangements; Mutations detection; Next generation sequencing

Mesh：

Substances：

Year:  2018        PMID： 29458049     DOI： 10.1016/j.cca.2018.02.012

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  10 in total

1.  Novel BRCA1 Large Genomic Rearrangements in Italian Breast/Ovarian Cancer Patients.

Authors:  Roberta Rizza; Karl Hackmann; Ida Paris; Angelo Minucci; Rossella De Leo; Evelin Schrock; Andrea Urbani; Ettore Capoluongo; Gianfranco Gelli; Paola Concolino
Journal:  Mol Diagn Ther       Date:  2019-02       Impact factor: 4.074

2.  Spliceogenic analysis of BRCA1 c.439T>C (rs794727800) variant by High Resolution Melting Analysis.

Authors:  Angelo Minucci; Giorgia Mazzuccato; Marco D'Indinosante; Lucia Di Nardo; Paola Concolino; Maria De Bonis; Andrea Urbani; Giovanni Scambia; Anna Fagotti; Ettore Capoluongo
Journal:  Mol Biol Rep       Date:  2019-12-12       Impact factor: 2.316

3.  Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.

Authors:  Anikó Bozsik; Tímea Pócza; János Papp; Tibor Vaszkó; Henriett Butz; Attila Patócs; Edit Oláh
Journal:  Int J Mol Sci       Date:  2020-06-30       Impact factor: 5.923

4.  Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.

Authors:  Aldo Germani; Fabio Libi; Stefano Maggi; Gianluca Stanzani; Augusto Lombardi; Patrizia Pellegrini; Mauro Mattei; Laura De Marchis; Claudio Amanti; Antonio Pizzuti; Maria Rosaria Torrisi; Maria Piane
Journal:  Oncotarget       Date:  2018-09-14

5.  BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic.

Authors:  Angelo Minucci; Giovanni Scambia; Concetta Santonocito; Paola Concolino; Andrea Urbani
Journal:  Mol Biol Rep       Date:  2020-05-09       Impact factor: 2.316

6.  Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer.

Authors:  Louisa Lepkes; Mohamad Kayali; Britta Blümcke; Jonas Weber; Malwina Suszynska; Sandra Schmidt; Julika Borde; Katarzyna Klonowska; Barbara Wappenschmidt; Jan Hauke; Piotr Kozlowski; Rita K Schmutzler; Eric Hahnen; Corinna Ernst
Journal:  Cancers (Basel)       Date:  2021-01-01       Impact factor: 6.639

7.  Elevated transcription and glycosylation of B3GNT5 promotes breast cancer aggressiveness.

Authors:  Zhaorui Miao; Qianhua Cao; Ruocen Liao; Xingyu Chen; Xiaoli Li; Longchang Bai; Chenglong Ma; Xinyue Deng; Zhijun Dai; Jun Li; Chenfang Dong
Journal:  J Exp Clin Cancer Res       Date:  2022-05-07

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

Authors:  Asmaa A Helal; Bishoy T Saad; Mina T Saad; Gamal S Mosaad; Khaled M Aboshanab
Journal:  Genes (Basel)       Date:  2022-09-03       Impact factor: 4.141

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

Authors:  Camilla Nero; Luca Boldrini; Jacopo Lenkowicz; Maria Teresa Giudice; Alessia Piermattei; Frediano Inzani; Tina Pasciuto; Angelo Minucci; Anna Fagotti; Gianfranco Zannoni; Vincenzo Valentini; Giovanni Scambia
Journal:  Int J Mol Sci       Date:  2022-09-26       Impact factor: 6.208

Review 10.  Germline Structural Variations in Cancer Predisposition Genes.

Authors:  Tímea Pócza; Vince Kornél Grolmusz; János Papp; Henriett Butz; Attila Patócs; Anikó Bozsik
Journal:  Front Genet       Date:  2021-04-14       Impact factor: 4.599
  10 in total

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