High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report-Reference-Cited by-同舟云学术

High-resolution melting analysis coupled with next-generation sequencing as a simple tool for the identification of a novel somatic BRCA2 variant: a case report

Published:2018-06-08 Issue:1 Volume:5 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Costella Alessandra,De Leo Rossella,Guarino Donatella,D’Indinosante Marco,Concolino Paola,Mazzuccato Giorgia,Urbani Andrea,Scambia Giovanni,Capoluongo Ettore,Fagotti Anna,Minucci Angelo

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-018-0006-x.pdf

Reference10 articles.

1. Nik-Zainal, S. et al. Breast Cancer Working Group of the International Cancer Genome Consortium: the life history of 21 breast cancers. Cell 149, 994–1007 (2012).

2. Sims, D., Sudbery, I., Ilott, N. E., Hegar, A. & Ponting, C. P. Sequencing depth and coverage: key considerations in genomic analyses. Nat. Rev. Genet. 15, 121–132 (2014).

3. Minucci, A. et al. Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review. Expert Rev. Mol. Diagn. 15, 1383–1403 (2015).

4. Concolino, P. et al. Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection. Clin. Chem. Lab. Med. 52, 1119–1127 (2014).

5. Minucci, A. et al. Identification of RFLP G6PD mutations by using microcapillary electrophoretic chips (Experion). J. Sep. Sci. 31, 2694–2700 (2008).

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1. Deep-Learning to Predict BRCA Mutation and Survival from Digital H&E Slides of Epithelial Ovarian Cancer;International Journal of Molecular Sciences;2022-09-26

2. Feasibility of tumor testing for BRCA status in high-grade serous ovarian cancer using fresh-frozen tissue based approach;Gynecologic Oncology;2020-09

3. High resolution melting profiles (HRMPs) obtained by magnetic induction cycler (MIC) have been used to monitor the BRCA2 status highlighted by next generation tumor sequencing (NGTS): a combined approach in a diagnostic environment;Molecular Biology Reports;2020-05-28

4. Detecting Large Germline Rearrangements of BRCA1 by Next Generation Tumor Sequencing;Molecular Biology;2020-05